Varaico: Literature-Extracted Genetic Variants

Gene:TUBA4A
Variant:p.K394_L397delFs

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.K394_L397delFs
c.1180_1190del11
Surrounding Variants
2 papers
NM_006000.3
p.L397P
c.1190T>C
1 paper
NM_006000.3
p.L397L
c.1189C>T
1 paper
NM_006000.3
p.A400T
c.1198G>A
1 paper
NM_006000.3
p.K401M
c.1202A>T
1 paper
NM_006000.3
p.K394E
c.1180A>G
2 papers
NM_006000.3
p.H393insFs
c.1177_1178insC
3 papers
NM_006000.3
p.H393fs
c.1177_1178fs
2 papers
NM_006000.3
p.R390H
c.1169G>A
1 paper
NM_006000.3
p.V405G
c.1214T>G
1 paper
NM_006000.3
p.R390C
c.1168C>T
27 papers
NM_006000.3
p.W407*
c.1220G>A
27 papers
NM_006000.3
p.W407*
c.1221G>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."