IGFBP5 c.412C>A ;(p.R138=)

Variant ID: 2-217543728-G-T

NM_000599.3(IGFBP5):c.412C>A;(p.R138=)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology.

Human Molecular Genetics
Bartell, Eric E; Fujimoto, Masanobu M; Khoury, Jane C JC; Khoury, Philip R PR; Vedantam, Sailaja S; Astley, Christina M CM; Hirschhorn, Joel N JN; Dauber, Andrew A
Publication Date: 2020-08-29

Variant appearance in text: rs11575194
PubMed Link: 32484228
Variant Present in the following documents:
  • Main text
View BVdb publication page



A rare coding allele in IFIH1 is protective for psoriatic arthritis.

Annals Of The Rheumatic Diseases
Budu-Aggrey, Ashley A; Bowes, John J; Stuart, Philip E PE; Zawistowski, Matthew M; Tsoi, Lam C LC; Nair, Rajan R; Jadon, Deepak Rohit DR; McHugh, Neil N; Korendowych, Eleanor E; Elder, James T JT; Barton, Anne A; Raychaudhuri, Soumya S
Publication Date: 2017-07

Variant appearance in text: rs11575194
PubMed Link: 28501801
Variant Present in the following documents:
  • annrheumdis-2016-210592supp001.pdf
View BVdb publication page



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: rs11575194
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: rs11575194
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 10
  • pone.0123569.s008.xls, sheet 5
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Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03

Variant appearance in text: rs11575194
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s008.xlsx, sheet 1
View BVdb publication page



Genetic variation in IGFBP2 and IGFBP5 is associated with breast cancer in populations of African descent.

Human Genetics
Garner, Chad P CP; Ding, Yuan C YC; John, Esther M EM; Ingles, Sue A SA; Olopade, Olufunmilayo I OI; Huo, Dezheng D; Adebamowo, Clement C; Ogundiran, Temidayo T; Neuhausen, Susan L SL
Publication Date: 2008-04

Variant appearance in text: rs11575194
PubMed Link: 18210156
Variant Present in the following documents:
  • Main text
View BVdb publication page