ICAM1 c.1432C>G ;(p.R478G)

Variant ID: 19-10395796-C-G

NM_000201.2(ICAM1):c.1432C>G;(p.R478G)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs5030400
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: rs5030400
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
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Variation in the ICAM1-ICAM4-ICAM5 locus is associated with systemic lupus erythematosus susceptibility in multiple ancestries.

Annals Of The Rheumatic Diseases
Kim, Kwangwoo K; Brown, Elizabeth E EE; Choi, Chan-Bum CB; Alarcón-Riquelme, Marta E ME; , ; Kelly, Jennifer A JA; Glenn, Stuart B SB; Ojwang, Joshua O JO; Adler, Adam A; Lee, Hye-Soon HS; Boackle, Susan A SA; Criswell, Lindsey A LA; Alarcón, Graciela S GS; Edberg, Jeffrey C JC; Stevens, Anne M AM; Jacob, Chaim O CO; Gilkeson, Gary S GS; Kamen, Diane L DL; Tsao, Betty P BP; Anaya, Juan-Manuel JM; Guthridge, Joel M JM; Nath, Swapan K SK; Richardson, Bruce B; Sawalha, Amr H AH; Kang, Young Mo YM; Shim, Seung Cheol SC; Suh, Chang-Hee CH; Lee, Soo-Kon SK; Kim, Chang-sik CS; Merrill, Joan T JT; Petri, Michelle M; Ramsey-Goldman, Rosalind R; Vilá, Luis M LM; Niewold, Timothy B TB; Martin, Javier J; Pons-Estel, Bernardo A BA; , ; Vyse, Timothy J TJ; Freedman, Barry I BI; Moser, Kathy L KL; Gaffney, Patrick M PM; Williams, Adrienne A; Comeau, Mary M; Reveille, John D JD; James, Judith A JA; Scofield, R Hal RH; Langefeld, Carl D CD; Kaufman, Kenneth M KM; Harley, John B JB; Kang, Changwon C; Kimberly, Robert P RP; Bae, Sang-Cheol SC
Publication Date: 2012-11

Variant appearance in text: rs5030400
PubMed Link: 22523428
Variant Present in the following documents:
  • Main text
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Variation in the ICAM1 gene is not associated with severe malaria phenotypes.

Genes And Immunity
Fry, A E AE; Auburn, S S; Diakite, M M; Green, A A; Richardson, A A; Wilson, J J; Jallow, M M; Sisay-Joof, F F; Pinder, M M; Griffiths, M J MJ; Peshu, N N; Williams, T N TN; Marsh, K K; Molyneux, M E ME; Taylor, T E TE; Rockett, K A KA; Kwiatkowski, D P DP
Publication Date: 2008-07

Variant appearance in text: rs5030400
PubMed Link: 18528404
Variant Present in the following documents:
  • Main text
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Interaction of P2 purinergic receptors with cellular macromolecules.

Naunyn-Schmiedeberg'S Archives Of Pharmacology
Köles, Laszlo L; Gerevich, Zoltan Z; Oliveira, João Felipe JF; Zadori, Zoltan Sandor ZS; Wirkner, Kerstin K; Illes, Peter P
Publication Date: 2008-03

Variant appearance in text: rs5030400
PubMed Link: 18273661
Variant Present in the following documents:
  • 210_2008_Article_275.pdf
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