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

2 papers

NM_178014.4

p.P358L

c.1073C>T

Surrounding Variants

2 papers

NM_178014.4

p.P357L

c.1070C>T

1 paper

NM_178014.4

p.I356N

c.1067T>A

1 paper

NM_178014.4

p.I356T

c.1067T>C

1 paper

NM_178014.4

p.G360_L361insFs

c.1080_1081insG

1 paper

NM_001293212.2

p.L381F

c.1141C>T

1 paper

NM_178014.4

p.L361fs

c.1081_1082fs

1 paper

NM_178014.4

p.D355V

c.1064A>T

3 papers

NM_178014.4

p.C354Y

c.1061G>A

1 paper

NM_178014.4

p.C354R

c.1060T>C

3 papers

NM_178014.4

p.M363T

c.1088T>C

14 papers

NM_178014.4

p.V353I

c.1057G>A

1 paper

NM_178014.4

p.A352A

c.1056C>G