Varaico: Literature-Extracted Genetic Variants

Gene:COCH
Variant:p.S111A

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
1 paper
NM_004086.3
p.S111A
c.331T>G
Surrounding Variants
1 paper
NM_004086.3
p.S111T
c.331T>A
1 paper
NM_004086.3
p.Q110K
c.328C>A
29 papers
NM_004086.3
p.I109N
c.326T>A
18 papers
NM_004086.3
p.I109T
c.326T>C
1 paper
NM_004086.3
p.I109V
c.325A>G
1 paper
NM_004086.3
p.I109F
c.325A>T
16 papers
NM_004086.3
p.L114P
c.341T>C
2 papers
NM_004086.3
p.R116K
c.347G>A
46 papers
NM_004086.3
p.W117R
c.349T>A
46 papers
NM_004086.3
p.W117R
c.349T>C
2 papers
NM_004086.3
p.D105_I109delFs
c.313_326del14
2 papers
NM_004086.3
p.V104_G108delFs
c.311_324del14
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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."