Varaico: Literature-Extracted Genetic Variants

Gene:TUBA4A
Variant:p.G57C

TUBA4A

320 papers

RefSeq Summary

Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are p...

Pfam Domains

Tubulinaa 3–214UCSCTubulin/FtsZ family, GTPase domain
Tubulin_Caa 263–393UCSCTubulin C-terminal domain

Gene Aliases

HGNC Name

tubulin alpha 4a

HGNC Previous Symbol

TUBA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006000.3
p.G57C
c.169G>T
Surrounding Variants
1 paper
NM_006000.3
p.A58V
c.173C>T
1 paper
NM_006000.3
p.E55K
c.163G>A
1 paper
NM_006000.3
p.F52L
c.156C>G
1 paper
NM_006000.3
p.F52L
c.156C>A
1 paper
NM_006000.3
p.H61Q
c.183C>G
1 paper
NM_006000.3
p.F52L
c.154T>C
2 papers
NM_006000.3
p.P63S
c.187C>T
8 papers
NM_006000.3
p.R64fs
c.190_191fs
2 papers
NM_006000.3
p.R64W
c.190C>T
1 paper
NM_006000.3
p.R64Q
c.191G>A
4 papers
NM_006000.3
p.P63delFs
c.187delG
1 paper
NM_006000.3
p.S48delFs
c.142_143delGA
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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."