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.G57A

c.170G>C

Surrounding Variants

1 paper

NM_006001.3

p.H61H

c.183C>T

1 paper

NM_006001.3

p.V62M

c.184G>A

1 paper

NM_006001.3

p.D47N

c.139G>A

1 paper

NM_006001.3

p.G45W

c.133G>T

1 paper

NM_006001.3

p.G45R

c.133G>C

1 paper

NM_006001.3

p.G45R

c.133G>A

1 paper

NM_006001.3

p.I42fs

c.124_125fs

1 paper

NM_006001.3

p.I42V

c.124A>G

1 paper

NM_006001.3

p.T41insFs

c.121_122insCA

3 papers

NM_006001.3

p.V75L

c.223G>C

1 paper

NM_006001.3

p.M36V

c.106A>G

1 paper

NM_006001.3

p.Q35L

c.104A>T