Varaico: Literature-Extracted Genetic Variants

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

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.V440M

c.1318G>A

Surrounding Variants

1 paper

NM_006001.3

p.V437L

c.1309G>T

1 paper

NM_006001.3

p.V437L

c.1309G>C

1 paper

NM_006001.3

p.V435V

c.1305G>A

1 paper

NM_006001.3

p.K430N

c.1290G>T

1 paper

NM_006001.3

p.K430N

c.1290G>C

1 paper

NM_006001.3

p.E423fs

c.1267_1268fs

1 paper

NM_006001.3

p.E423fs

c.1267_1268fs

1 paper

NM_006001.3

p.R422_E423insFs

c.1266_1267ins47

1 paper

NM_006001.3

p.E417*

c.1249G>T

1 paper

NM_006001.3

p.W407*

c.1221G>A

1 paper

NM_006001.3

p.W407*

c.1220G>A

1 paper

NM_006001.3

p.L397P

c.1190T>C