Varaico: Literature-Extracted Genetic Variants

Gene:COCH
Variant:p.G88E

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
59 papers
NM_004086.3
p.G88E
c.263G>A
Surrounding Variants
5 papers
NM_004086.3
p.G88A
c.263G>C
1 paper
NM_004086.3
p.G88R
c.262G>A
1 paper
NM_004086.3
p.G88*
c.262G>T
7 papers
NM_004086.3
p.P89H
c.266C>A
2 papers
NM_004086.3
p.G87A
c.260G>C
12 papers
NM_004086.3
p.G87V
c.260G>T
22 papers
NM_004086.3
p.G87W
c.259G>T
1 paper
NM_004086.3
p.V90insFs
c.269_270insT
2 papers
NM_004086.3
p.S86*
c.257C>G
3 papers
NM_004086.3
p.R91G
c.271C>G
1 paper
NM_004086.3
p.R91*
c.271C>T
1 paper
NM_004086.3
p.R91Q
c.272G>A
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