Varaico: Literature-Extracted Genetic Variants

Gene:ITGB1BP2
Variant:p.Q267K

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
Selected Variant
1 paper
NM_012278.4
p.Q267K
c.799C>A
Surrounding Variants
1 paper
NM_012278.4
p.V233A
c.698T>C
1 paper
NM_012278.4
p.T232N
c.695C>A
1 paper
NM_012278.4
p.A216S
c.646G>T
1 paper
NM_012278.4
p.V281V
c.843C>T
1 paper
NM_012278.4
p.R287W
c.859C>T
1 paper
NM_012278.4
p.V288A
c.863T>C
2 papers
NM_012278.4
p.A313G
c.938C>G
1 paper
NM_012278.4
p.V318E
c.953T>A
1 paper
NM_012278.4
p.E323D
c.969G>C
1 paper
NM_012278.4
p.E323D
c.969G>T
1 paper
NM_012278.4
p.E341D
c.1023G>C
1 paper
NM_012278.4
p.E341D
c.1023G>T
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