Varaico: Literature-Extracted Genetic Variants

Gene:ITGB1BP2

ITGB1BP2

31 papers

RefSeq Summary

This gene encodes a protein with two cysteine and histidine-rich (CHORD) domains, PXXP motifs, YXXI/P motifs, putative SH2 and SH3 domain binding motifs, and an acidic region at the C-terminus that ca...

Pfam Domains

CHORDaa 3–64UCSCCHORD
CHORDaa 147–208UCSCCHORD
CSaa 218–294UCSCCS domain

Gene Aliases

HGNC Name

integrin subunit beta 1 binding protein 2

HGNC Alias Symbol

CHORDC3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 34 variants
2 papers
NM_012278.4
p.H13Y
c.37C>T
2 papers
NM_012278.4
p.A313G
c.938C>G
1 paper
NM_012278.4
p.M1V
c.1A>G
1 paper
NM_012278.4
p.C5*
c.15T>A
1 paper
NM_012278.4
p.N19D
c.55A>G
1 paper
NM_012278.4
p.L20F
c.58C>T
1 paper
NM_012278.4
p.P28_G29delFs
c.82_85del4
1 paper
NM_012278.4
p.V30F
c.88G>T
1 paper
NM_012278.4
p.V30_K38delFs
c.90_114del25
1 paper
NM_012278.4
p.R46_T47delFs
c.136_139del4
1 paper
NM_012278.4
p.R46fs
c.136_137fs
1 paper
NM_012278.4
p.P63L
c.188C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."