Varaico: Literature-Extracted Genetic Variants

Gene:COCH
Variant:p.L56delFs

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
7 papers
NM_004086.3
p.L56delFs
c.167delT
Surrounding Variants
1 paper
NM_004086.3
p.P55delFs
c.165delT
1 paper
NM_004086.3
p.P55S
c.163C>T
3 papers
NM_004086.3
p.F59_N64delFs
c.176_191del16
1 paper
NM_004086.3
p.G52E
c.155G>A
1 paper
NM_004086.3
p.P51P
c.153A>G
1 paper
NM_004086.3
p.S60C
c.179C>G
104 papers
NM_004086.3
p.P51S
c.151C>T
1 paper
NM_004086.3
p.V61M
c.181G>A
1 paper
NM_004086.3
p.V61A
c.182T>C
2 papers
NM_004086.3
p.C50fs
c.148_149fs
1 paper
NM_004086.3
p.Y62F
c.185A>T
1 paper
NM_004086.3
p.L49P
c.146T>C
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