Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.E417D

TUBA1A

358 papers

RefSeq Summary

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

Pfam Domains

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

Gene Aliases

HGNC Name

tubulin alpha 1a

HGNC Alias Symbols

TUBA3; B-ALPHA-1; FLJ25113

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006009.4
p.E417D
c.1251G>T
Surrounding Variants
1 paper
NM_006009.4
p.E417D
c.1251G>C
2 papers
NM_006009.4
p.F418V
c.1252T>G
2 papers
NM_006009.4
p.F418L
c.1252T>C
1 paper
NM_006009.4
p.F418I
c.1252T>A
1 paper
NM_006009.4
p.E417V
c.1250A>T
2 papers
NM_006009.4
p.E417G
c.1250A>G
1 paper
NM_006009.4
p.E417A
c.1250A>C
1 paper
NM_006009.4
p.F418C
c.1253T>G
1 paper
NM_006009.4
p.F418S
c.1253T>C
1 paper
NM_006009.4
p.F418Y
c.1253T>A
2 papers
NM_006009.4
p.E417Q
c.1249G>C
3 papers
NM_006009.4
p.E417K
c.1249G>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."