Varaico: Literature-Extracted Genetic Variants

Gene:TTYH3
Variant:p.G100S

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
2 papers
NM_025250.3
p.G100S
c.298G>A
Surrounding Variants
1 paper
NM_025250.3
p.Y106H
c.316T>C
1 paper
NM_025250.3
p.T111S
c.331A>T
1 paper
NM_025250.3
p.T111S
c.332C>G
1 paper
NM_025250.3
p.T111I
c.332C>T
1 paper
NM_025250.3
p.D113E
c.339T>A
1 paper
NM_025250.3
p.V132F
c.394G>T
1 paper
NM_025250.3
p.R135C
c.403C>T
1 paper
NM_025250.3
p.L95delFs
c.285delG
1 paper
NM_025250.3
p.T94M
c.281C>T
1 paper
NM_025250.3
p.I92I
c.276C>A
1 paper
NM_025250.3
p.W88delFs
c.264delG
1 paper
NM_025250.3
p.C85*
c.255C>A
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