Varaico: Literature-Extracted Genetic Variants

Gene:TUB
Variant:p.K380E

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.K380E
c.1138A>G
Surrounding Variants
1 paper
NM_003320.5
p.G433A
c.1298G>C
2 papers
NM_003320.5
p.V431I
c.1291G>A
NM_177972.3
p.V376I
c.1126G>A
1 paper
NM_003320.5
p.Y427_E428Splc
c.1282-3C>T
4 papers
NM_177972.3
p.R398_V399delFs
c.1194_1195delAG
1 paper
NM_177972.3
p.R398fs
c.1192_1193fs
4 papers
NM_177972.3
p.R398fs
c.1192_1193fs
2 papers
NM_177972.3
p.R402H
c.1205G>A
1 paper
NM_177972.3
p.R404C
c.1210C>T
1 paper
NM_177972.3
p.R404H
c.1211G>A
2 papers
NM_003320.5
p.N460S
c.1379A>G
NM_177972.3
p.N405S
c.1214A>G
1 paper
NM_177972.3
p.N405_E406Splc
c.1215+1G>A
1 paper
NM_177972.3
p.E406fs
c.1216_1217fs
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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."