Varaico: Literature-Extracted Genetic Variants

Gene:COCH
Variant:p.H79delFs

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
16 papers
NM_004086.3
p.H79delFs
c.235delC
Surrounding Variants
2 papers
NM_004086.3
p.H79R
c.236A>G
1 paper
NM_004086.3
p.A77insFs
c.229_230insGC
1 paper
NM_004086.3
p.A76V
c.227C>T
1 paper
NM_004086.3
p.R80M
c.239G>T
6 papers
NM_004086.3
p.A76T
c.226G>A
1 paper
NM_004086.3
p.R80Splc
c.239+5G>A
1 paper
NM_004086.3
p.I73T
c.218T>C
1 paper
NM_004086.3
p.S71L
c.212C>T
1 paper
NM_004086.3
p.S71_G75delFs
c.211_223del13
1 paper
NM_004086.3
p.V66A
c.197T>C
45 papers
NM_004086.3
p.V66G
c.197T>G
1 paper
NM_004086.3
p.G63W
c.187G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."