Varaico: Literature-Extracted Genetic Variants

Gene:TTYH3
Variant:p.I92I

TTYH3

50 papers

RefSeq Summary

This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chlo...

Pfam Domains

Tweetyaa 7–436UCSCTweety

Gene Aliases

HGNC Name

tweety family member 3

HGNC Alias Symbol

KIAA1691

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025250.3
p.I92I
c.276C>A
Surrounding Variants
1 paper
NM_025250.3
p.T94M
c.281C>T
1 paper
NM_025250.3
p.L95delFs
c.285delG
1 paper
NM_025250.3
p.W88delFs
c.264delG
1 paper
NM_025250.3
p.C85*
c.255C>A
1 paper
NM_025250.3
p.H78D
c.232C>G
1 paper
NM_025250.3
p.R72W
c.214C>T
1 paper
NM_025250.3
p.F63Y
c.188T>A
1 paper
NM_025250.3
p.F63C
c.188T>G
1 paper
NM_025250.3
p.D57H
c.169G>C
1 paper
NM_025250.3
p.L56Q
c.167T>A
2 papers
NM_025250.3
p.G100S
c.298G>A
1 paper
NM_025250.3
p.L43Q
c.128T>A
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