Varaico: Literature-Extracted Genetic Variants

TUBB

382 papers

RefSeq Summary

This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, wi...

Pfam Domains

Tubulinaa 1–140UCSCTubulin/FtsZ family, GTPase domain

Tubulinaa 3–212UCSCTubulin/FtsZ family, GTPase domain

Tubulin_Caa 189–311UCSCTubulin C-terminal domain

Gene Aliases

HGNC Name

tubulin beta class I

HGNC Alias Symbols

OK/SW-cl.56; MGC16435; M40; Tubb5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_178014.4

p.Q424R

c.1271A>G

Surrounding Variants

1 paper

NM_001293213.2

p.Q222L

c.665A>T

1 paper

NM_001293212.2

p.Q444fs

c.1330_1331fs

1 paper

NM_001293212.2

p.Q444Fs

c.1330_1331delinsAFs

3 papers

NM_178014.4

p.Q423*

c.1267C>T

3 papers

NM_178014.4

p.Y422C

c.1265A>G

1 paper

NM_178014.4

p.E421D

c.1263G>C

1 paper

NM_178014.4

p.E421D

c.1263G>T

1 paper

NM_178014.4

p.E421A

c.1262A>C

2 papers

NM_178014.4

p.E421K

c.1261G>A

1 paper

NM_178014.4

p.L418I

c.1252C>A

1 paper

NM_001293212.2

p.E451K

c.1351G>A

1 paper

NM_178014.4

p.D417A

c.1250A>C