Varaico: Literature-Extracted Genetic Variants

Gene:COCH

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
1–12 of 295 variants
104 papers
NM_004086.3
p.P51S
c.151C>T
59 papers
NM_004086.3
p.G88E
c.263G>A
46 papers
NM_004086.3
p.W117R
c.349T>A
46 papers
NM_004086.3
p.W117R
c.349T>C
45 papers
NM_004086.3
p.V66G
c.197T>G
31 papers
NM_004086.3
p.C542F
c.1625G>T
29 papers
NM_004086.3
p.I109N
c.326T>A
28 papers
NM_004086.3
p.A119T
c.355G>A
26 papers
NM_004086.3
p.M512T
c.1535T>C
25 papers
NM_004086.3
p.C542Y
c.1625G>A
23 papers
NM_004086.3
p.D40V
c.119A>T
23 papers
NM_004086.3
p.V104del1
c.310_311delGTA
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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."