Varaico: Literature-Extracted Genetic Variants

Gene:COCH
Variant:p.W117R

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
46 papers
NM_004086.3
p.W117R
c.349T>A
Surrounding Variants
46 papers
NM_004086.3
p.W117R
c.349T>C
2 papers
NM_004086.3
p.R116K
c.347G>A
28 papers
NM_004086.3
p.A119T
c.355G>A
16 papers
NM_004086.3
p.L114P
c.341T>C
14 papers
NM_004086.3
p.F121S
c.362T>C
1 paper
NM_004086.3
p.T122A
c.364A>G
1 paper
NM_004086.3
p.V123L
c.367G>C
1 paper
NM_004086.3
p.V123L
c.367G>T
1 paper
NM_004086.3
p.S111T
c.331T>A
1 paper
NM_004086.3
p.S111A
c.331T>G
11 papers
NM_004086.3
p.V123E
c.368T>A
1 paper
NM_004086.3
p.T124A
c.370A>G
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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."