Varaico: Literature-Extracted Genetic Variants

Gene:COCH
Variant:p.M512T

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
26 papers
NM_004086.3
p.M512T
c.1535T>C
Surrounding Variants
1 paper
NM_004086.3
p.D511_M512ins4
c.1531_1535ins12
2 papers
NM_004086.3
p.K510R
c.1529A>G
1 paper
NM_004086.3
p.S514F
c.1541C>T
1 paper
NM_004086.3
p.P516A
c.1546C>G
1 paper
NM_004086.3
p.E518G
c.1553A>G
1 paper
NM_004086.3
p.E518E
c.1554G>A
1 paper
NM_004086.3
p.H520R
c.1559A>G
1 paper
NM_004086.3
p.G500_V501ins6
c.1500_1501ins18
1 paper
NM_004086.3
p.V501insFs
c.1501_1502ins4
1 paper
NM_004086.3
p.F527Y
c.1580T>A
11 papers
NM_004086.3
p.F527C
c.1580T>G
2 papers
NM_004086.3
p.V534_R539del0
c.1600_1617del18
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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."