Varaico: Literature-Extracted Genetic Variants

Gene:TUBB4A
Variant:p.N247K

TUBB4A

282 papers

RefSeq Summary

This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in ...

Pfam Domains

Tubulinaa 1–140UCSCTubulin/FtsZ family, GTPase domain
Tubulin_Caa 189–311UCSCTubulin C-terminal domain

Gene Aliases

HGNC Name

tubulin beta 4A class IVa

HGNC Previous Symbols

TUBB4; DYT4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006087.4
p.N247K
c.741C>G
Surrounding Variants
1 paper
NM_006087.4
p.N247K
c.741C>A
2 papers
NM_006087.4
p.A248T
c.742G>A
1 paper
NM_006087.4
p.N247S
c.740A>G
3 papers
NM_006087.4
p.A248V
c.743C>T
3 papers
NM_006087.4
p.A248D
c.743C>A
1 paper
NM_006087.4
p.D249H
c.745G>C
68 papers
NM_006087.4
p.D249N
c.745G>A
NM_001289123.2
p.D300N
c.898G>A
1 paper
NM_006087.4
p.L250V
c.748C>G
1 paper
NM_006087.4
p.Q245L
c.734A>T
1 paper
NM_006087.4
p.G244G
c.732C>A
5 papers
NM_006087.4
p.G244V
c.731G>T
5 papers
NM_006087.4
p.G244D
c.731G>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."