Varaico: Literature-Extracted Genetic Variants

Gene:TTYH3
Variant:p.H16_L18del3

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.H16_L18del3
c.46_53del9
Surrounding Variants
1 paper
NM_025250.3
p.W10C
c.30G>C
1 paper
NM_025250.3
p.W10C
c.30G>T
1 paper
NM_025250.3
p.Y6del1
c.16_18delTAC
2 papers
NM_025250.3
p.W25G
c.73T>G
1 paper
NM_025250.3
p.W25*
c.74G>A
1 paper
NM_025250.3
p.W25*
c.75G>A
1 paper
NM_025250.3
p.A2insFs
c.6dupC
1 paper
NM_025250.3
p.R33W
c.97C>T
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