Varaico: Literature-Extracted Genetic Variants

Gene:COCH
Variant:p.V66G

COCH

293 papers

RefSeq Summary

The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this ...

Pfam Domains

LCCLaa 32–121UCSCLCCL domain
VWAaa 165–342UCSCvon Willebrand factor type A domain
VWAaa 367–536UCSCvon Willebrand factor type A domain

Gene Aliases

HGNC Name

cochlin

HGNC Previous Symbols

DFNA31; DFNA9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
45 papers
NM_004086.3
p.V66G
c.197T>G
Surrounding Variants
1 paper
NM_004086.3
p.V66A
c.197T>C
1 paper
NM_004086.3
p.G63W
c.187G>T
1 paper
NM_004086.3
p.Y62F
c.185A>T
1 paper
NM_004086.3
p.S71_G75delFs
c.211_223del13
1 paper
NM_004086.3
p.S71L
c.212C>T
1 paper
NM_004086.3
p.V61A
c.182T>C
1 paper
NM_004086.3
p.V61M
c.181G>A
1 paper
NM_004086.3
p.S60C
c.179C>G
1 paper
NM_004086.3
p.I73T
c.218T>C
3 papers
NM_004086.3
p.F59_N64delFs
c.176_191del16
6 papers
NM_004086.3
p.A76T
c.226G>A
1 paper
NM_004086.3
p.A76V
c.227C>T
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