Varaico: Literature-Extracted Genetic Variants

Gene:TUB
Variant:p.H459Y

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.H459Y
c.1375C>T
Surrounding Variants
1 paper
NM_177972.3
p.N461S
c.1382A>G
1 paper
NM_177972.3
p.D462D
c.1386C>T
2 papers
NM_177972.3
p.P463Splc
c.1387+1G>A
1 paper
NM_177972.3
p.P463Splc
c.1387+3G>A
1 paper
NM_177972.3
p.K453_N454delFs
c.1359_1360delGA
1 paper
NM_177972.3
p.R446H
c.1337G>A
1 paper
NM_177972.3
p.V431I
c.1291G>A
2 papers
NM_177972.3
p.R413C
c.1237C>T
1 paper
NM_177972.3
p.L411Q
c.1232T>A
1 paper
NM_177972.3
p.L410L
c.1228C>T
1 paper
NM_177972.3
p.E406fs
c.1216_1217fs
1 paper
NM_177972.3
p.N405_E406Splc
c.1215+1G>A
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