Varaico: Literature-Extracted Genetic Variants

Gene:COCH
Variant:p.V104del1

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
23 papers
NM_004086.3
p.V104del1
c.310_311delGTA
Surrounding Variants
2 papers
NM_004086.3
p.V104_G108delFs
c.311_324del14
2 papers
NM_004086.3
p.D105_I109delFs
c.313_326del14
2 papers
NM_004086.3
p.N100delFs
c.299_300delAC
1 paper
NM_004086.3
p.E99K
c.295G>A
5 papers
NM_004086.3
p.R98*
c.292C>T
1 paper
NM_004086.3
p.I109V
c.325A>G
1 paper
NM_004086.3
p.I109F
c.325A>T
29 papers
NM_004086.3
p.I109N
c.326T>A
18 papers
NM_004086.3
p.I109T
c.326T>C
1 paper
NM_004086.3
p.Q110K
c.328C>A
1 paper
NM_004086.3
p.S111T
c.331T>A
1 paper
NM_004086.3
p.S111A
c.331T>G
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