Varaico: Literature-Extracted Genetic Variants

Gene:TUBA3C
Variant:p.K124E

TUBA3C

83 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
Tubulinaa 3–214UCSCTubulin/FtsZ family, GTPase domain
Tubulin_Caa 263–393UCSCTubulin C-terminal domain
Tubulin_Caa 263–393UCSCTubulin C-terminal domain

Gene Aliases

HGNC Name

tubulin alpha 3c

HGNC Previous Symbol

TUBA2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006001.3
p.K124E
c.370A>G
Surrounding Variants
2 papers
NM_006001.3
p.R123C
c.367C>T
1 paper
NM_006001.3
p.R121W
c.361C>T
1 paper
NM_006001.3
p.R121_I122insCA
c.361_365ins6
1 paper
NM_006001.3
p.D116E
c.348C>G
1 paper
NM_006001.3
p.D116E
c.348C>A
1 paper
NM_006001.3
p.A104T
c.310G>A
1 paper
NM_006001.3
p.A99V
c.296C>T
1 paper
NM_006001.3
p.E97K
c.289G>A
1 paper
NM_006001.3
p.G95R
c.283G>C
1 paper
NM_006001.3
p.G95R
c.283G>A
1 paper
NM_006001.3
p.H88Q
c.264C>G
1 paper
NM_006001.3
p.H88Q
c.264C>A
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."