Varaico: Literature-Extracted Genetic Variants

Gene:TUB
Variant:p.V246A

TUB

146 papers

RefSeq Summary

This gene encodes a member of the Tubby family of bipartite transcription factors. The encoded protein may play a role in obesity and sensorineural degradation. The crystal structure has been determin...

Pfam Domains

Tub_Naa 29–237UCSCTubby N-terminal
Tubaa 255–501UCSCTub family

Gene Aliases

HGNC Name

TUB bipartite transcription factor

HGNC Alias Symbol

rd5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_177972.3
p.V246A
c.737T>C
Surrounding Variants
1 paper
NM_177972.3
p.V246I
c.736G>A
1 paper
NM_177972.3
p.L256V
c.766C>G
1 paper
NM_177972.3
p.A232A
c.696C>A
1 paper
NM_177972.3
p.I263V
c.787A>G
1 paper
NM_177972.3
p.T270_K273del4
c.808_818del12
1 paper
NM_177972.3
p.T270I
c.809C>T
1 paper
NM_177972.3
p.A300V
c.899C>T
1 paper
NM_177972.3
p.G301R
c.901G>A
2 papers
NM_177972.3
p.K308R
c.923A>G
1 paper
NM_177972.3
p.S315T
c.943T>A
1 paper
NM_177972.3
p.S315C
c.944C>G
1 paper
NM_177972.3
p.E205K
c.613G>A
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