Varaico: Literature-Extracted Genetic Variants

Gene:TUBA3C
Variant:p.S379R

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.S379R
c.1135A>C
Surrounding Variants
1 paper
NM_006001.3
p.S379R
c.1137C>G
1 paper
NM_006001.3
p.S379R
c.1137C>A
1 paper
NM_006001.3
p.T381S
c.1141A>T
1 paper
NM_006001.3
p.T381S
c.1142C>G
1 paper
NM_006001.3
p.C376S
c.1127G>C
1 paper
NM_006001.3
p.C376S
c.1126T>A
1 paper
NM_006001.3
p.T382M
c.1145C>T
1 paper
NM_006001.3
p.E386V
c.1157A>T
2 papers
NM_006001.3
p.R390C
c.1168C>T
1 paper
NM_006001.3
p.R390H
c.1169G>A
1 paper
NM_006001.3
p.D367E
c.1101C>G
1 paper
NM_006001.3
p.D367E
c.1101C>A
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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."