Varaico: Literature-Extracted Genetic Variants

Gene:TUBA4A
Variant:p.S48P

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.S48P
c.142T>C
Surrounding Variants
1 paper
NM_006000.3
p.S48delFs
c.142_143delGA
1 paper
NM_006000.3
p.G45A
c.134G>C
1 paper
NM_006000.3
p.F52L
c.154T>C
1 paper
NM_006000.3
p.G44R
c.130G>C
1 paper
NM_006000.3
p.G44R
c.130G>A
11 papers
NM_006000.3
p.G43V
c.128G>T
1 paper
NM_006000.3
p.F52L
c.156C>G
1 paper
NM_006000.3
p.F52L
c.156C>A
4 papers
NM_006000.3
p.I42T
c.125T>C
1 paper
NM_006000.3
p.E55K
c.163G>A
4 papers
NM_006000.3
p.K40R
c.119A>G
5 papers
NM_006000.3
p.K40Q
c.118A>C
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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."