Varaico: Literature-Extracted Genetic Variants

ITGAX

347 papers

RefSeq Summary

This gene encodes the integrin alpha X chain protein. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein combines with the beta 2 chain (I...

Pfam Domains

VWAaa 151–328UCSCvon Willebrand factor type A domain

FG-GAPaa 458–495UCSCFG-GAP repeat

FG-GAPaa 521–556UCSCFG-GAP repeat

Integrin_A_Ig_1aa 615–770UCSCIntegrin alpha Ig-like domain 1

Integrin_A_Ig_2aa 771–920UCSCIntegrin alpha Ig-like domain 2

ITGAX-like_Ig_3aa 921–1101UCSCIntegrin alpha-X-like, Ig-like domain 3

Gene Aliases

HGNC Name

integrin subunit alpha X

HGNC Previous Symbol

CD11C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000887.5

p.W48R

c.142T>C

Surrounding Variants

1 paper

NM_000887.5

p.W48R

c.142T>A

2 papers

NM_000887.5

p.V41A

c.122T>C

1 paper

NM_000887.5

p.S40T

c.119G>C

1 paper

NM_000887.5

p.V32A

c.95T>C

1 paper

NM_000887.5

p.L27Q

c.80T>A

1 paper

NM_000887.5

p.N21K

c.63C>A

1 paper

NM_000887.5

p.N21K

c.63C>G

1 paper

NM_000887.5

p.G19_F20insFs

c.57_58insTT

1 paper

NM_000887.5

p.G52R

c.154G>A

1 paper

NM_000887.5

p.G52R

c.154G>C

1 paper

NM_000887.5

p.T63S

c.187A>T

1 paper

NM_000887.5

p.G65D

c.194G>A