Varaico: Literature-Extracted Genetic Variants

Gene:COCH
Variant:p.C542F

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
31 papers
NM_004086.3
p.C542F
c.1625G>T
Surrounding Variants
25 papers
NM_004086.3
p.C542Y
c.1625G>A
1 paper
NM_004086.3
p.C542S
c.1625G>C
1 paper
NM_004086.3
p.C542S
c.1624T>A
9 papers
NM_004086.3
p.C542R
c.1624T>C
2 papers
NM_004086.3
p.I541F
c.1621A>T
1 paper
NM_004086.3
p.D544fs
c.1630_1631fs
1 paper
NM_004086.3
p.I538F
c.1612A>T
1 paper
NM_004086.3
p.V537insFs
c.1609_1610insC
2 papers
NM_004086.3
p.V534_R539del0
c.1600_1617del18
1 paper
NM_004086.3
p.F527Y
c.1580T>A
11 papers
NM_004086.3
p.F527C
c.1580T>G
1 paper
NM_004086.3
p.H520R
c.1559A>G
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."