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

1–12 of 121 variants

3 papers

NM_006001.3

p.V75L

c.223G>C

3 papers

NM_006001.3

p.P261L

c.782C>T

2 papers

NM_006001.3

p.R123C

c.367C>T

2 papers

NM_006001.3

p.M154I

c.462G>T

2 papers

NM_006001.3

p.M154I

c.462G>C

2 papers

NM_006001.3

p.M154I

c.462G>A

2 papers

NM_006001.3

p.V182M

c.544G>A

2 papers

NM_006001.3

p.R215C

c.643C>T

2 papers

NM_006001.3

p.S277P

c.829T>C

2 papers

NM_006001.3

p.C347F

c.1040G>T

2 papers

NM_006001.3

p.R390C

c.1168C>T

1 paper

NM_006001.3

p.Q15Q

c.45G>A