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

2 papers

NM_006001.3

p.R215C

c.643C>T

Surrounding Variants

1 paper

NM_006001.3

p.R215H

c.644G>A

1 paper

NM_006001.3

p.G232V

c.695G>T

1 paper

NM_006001.3

p.E196*

c.586G>T

1 paper

NM_006001.3

p.I238V

c.712A>G

1 paper

NM_006001.3

p.T239M

c.716C>T

1 paper

NM_006001.3

p.I188L

c.562A>C

1 paper

NM_006001.3

p.R243*

c.727C>T

1 paper

NM_006001.3

p.R243Q

c.728G>A

1 paper

NM_006001.3

p.D245H

c.733G>C

1 paper

NM_006001.3

p.G246R

c.736G>C

1 paper

NM_006001.3

p.G246R

c.736G>A

2 papers

NM_006001.3

p.V182M

c.544G>A