EPHB4 c.691C>T ;(p.P231S)

Variant ID: 7-100420010-G-A

NM_004444.4(EPHB4):c.691C>T;(p.P231S)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus.

Clinical & Translational Immunology
Ameratunga, Rohan R; Koopmans, Wikke W; Woon, See-Tarn ST; Leung, Euphemia E; Lehnert, Klaus K; Slade, Charlotte A CA; Tempany, Jessica C JC; Enders, Anselm A; Steele, Richard R; Browett, Peter P; Hodgkin, Philip D PD; Bryant, Vanessa L VL
Publication Date: 2017-10

Variant appearance in text: EPHB4: Pro231Ser; rs147563837
PubMed Link: 29114388
Variant Present in the following documents:
  • cti201741x3.pdf
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: EPHB4: P231S; rs147563837
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



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: EPHB4: P231S; rs147563837
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page