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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TTYH1

TTYH1

42 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+)-independent, volume-sensitive la...

Pfam Domains

Tweetyaa 8–442UCSCTweety

Gene Aliases

HGNC Name

tweety family member 1

HGNC Previous Names

tweety (Drosophila) homolog 1; tweety homolog 1 (Drosophila)

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 41 variants

2 papers

chr19:54419257 G>A

NM_020659.4

p.G86R

c.256G>A

Tweety

Exome: 0.0% (AC=410, hom=3)Genome: 0.0% (AC=28, hom=0)12 overlapping SVs

2 papers

chr19:54419257 G>C

NM_020659.4

p.G86R

c.256G>C

Tweety

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=3, hom=0)12 overlapping SVs

2 papers

chr19:54422265 C>T

NM_020659.4

p.R165C

c.493C>T

Tweety

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=1, hom=0)11 overlapping SVs

2 papers

chr19:54435561 G>C

NM_020659.4

p.R382P

c.1145G>C

Tweety

Exome: 0.0% (AC=2, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr19:54415576 G>A

NM_020659.4

p.R8R

c.24G>A

Tweety

Exome: 0.0% (AC=29, hom=0)Genome: 0.0% (AC=11, hom=0)13 overlapping SVs

1 paper

chr19:54415589 G>A

NM_020659.4

p.V13M

c.37G>A

Tweety

Exome: 0.0% (AC=2, hom=0)Genome: n/a13 overlapping SVs

1 paper

chr19:54415651 C>T

NM_020659.4

p.F33F

c.99C>T

Tweety

Exome: 0.0% (AC=1, hom=0)Genome: n/a13 overlapping SVs

1 paper

chr19:54419187 C>T

NM_020659.4

p.I62I

c.186C>T

Tweety

Exome: 0.1% (AC=801, hom=5)Genome: 0.1% (AC=94, hom=0)12 overlapping SVs

1 paper

chr19:54419221 C>A

NM_020659.4

p.P74T

c.220C>A

Tweety

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=11, hom=0)12 overlapping SVs

1 paper

chr19:54419233 C>T

NM_020659.4

p.P78S

c.232C>T

Tweety

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)12 overlapping SVs

1 paper

chr19:54419270 T>C

NM_020659.4

p.V90A

c.269T>C

Tweety

exact variant not in gnomAD12 overlapping SVs

1 paper

chr19:54419291 C>T

NM_020659.4

p.A97V

c.290C>T

Tweety

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=6, hom=0)12 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."