Varaico: Literature-Extracted Genetic Variants

Gene:COCH
Variant:p.I41N

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.I41N
c.122T>A
Surrounding Variants
23 papers
NM_004086.3
p.D40V
c.119A>T
5 papers
NM_004086.3
p.L39*
c.116T>A
17 papers
NM_004086.3
p.G38D
c.113G>A
1 paper
NM_004086.3
p.T36S
c.107C>G
1 paper
NM_004086.3
p.T36_R37ins6
c.106_110ins18
1 paper
NM_004086.3
p.C34Y
c.101G>A
3 papers
NM_004086.3
p.L49insFs
c.146dupT
1 paper
NM_004086.3
p.L49P
c.146T>C
2 papers
NM_004086.3
p.C50fs
c.148_149fs
104 papers
NM_004086.3
p.P51S
c.151C>T
1 paper
NM_004086.3
p.P51P
c.153A>G
1 paper
NM_004086.3
p.A31T
c.91G>A
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