Varaico: Literature-Extracted Genetic Variants

Gene:COCH
Variant:p.N100delFs

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
2 papers
NM_004086.3
p.N100delFs
c.299_300delAC
Surrounding Variants
1 paper
NM_004086.3
p.E99K
c.295G>A
5 papers
NM_004086.3
p.R98*
c.292C>T
23 papers
NM_004086.3
p.V104del1
c.310_311delGTA
2 papers
NM_004086.3
p.V104_G108delFs
c.311_324del14
2 papers
NM_004086.3
p.D105_I109delFs
c.313_326del14
3 papers
NM_004086.3
p.S94S
c.282C>T
5 papers
NM_004086.3
p.V92D
c.275T>A
1 paper
NM_004086.3
p.R91Q
c.272G>A
1 paper
NM_004086.3
p.I109V
c.325A>G
1 paper
NM_004086.3
p.I109F
c.325A>T
3 papers
NM_004086.3
p.R91G
c.271C>G
1 paper
NM_004086.3
p.R91*
c.271C>T
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