Varaico: Literature-Extracted Genetic Variants

Gene:TUB
Variant:p.R57Q

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
2 papers
NM_177972.3
p.R57Q
c.170G>A
Surrounding Variants
1 paper
NM_177972.3
p.R55Q
c.164G>A
1 paper
NM_177972.3
p.A61T
c.181G>A
1 paper
NM_177972.3
p.R62L
c.185G>T
1 paper
NM_177972.3
p.Q49L
c.146A>T
2 papers
NM_177972.3
p.Q49*
c.145C>T
1 paper
NM_177972.3
p.Q49_P56del8
c.145_167del24
1 paper
NM_177972.3
p.A68_P69del2
c.202_206del6
1 paper
NM_177972.3
p.L46L
c.136C>T
1 paper
NM_177972.3
p.P69L
c.206C>T
1 paper
NM_177972.3
p.P45S
c.133C>T
1 paper
NM_177972.3
p.E44D
c.132G>T
1 paper
NM_177972.3
p.Q43*
c.127C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."