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

2 papers

NM_000887.5

p.I281delFs

c.843delC

Surrounding Variants

1 paper

NM_000887.5

p.D277N

c.829G>A

1 paper

NM_000887.5

p.P274H

c.821C>A

1 paper

NM_000887.5

p.D265A

c.794A>C

1 paper

NM_000887.5

p.V256L

c.766G>C

1 paper

NM_000887.5

p.K252E

c.754A>G

2 papers

NM_000887.5

p.A251T

c.751G>A

2 papers

NM_000887.5

p.R248W

c.742A>T

1 paper

NM_000887.5

p.R247L

c.740G>T

1 paper

NM_000887.5

p.G245V

c.734G>T

1 paper

NM_000887.5

p.Y244C

c.731A>G

1 paper

NM_000887.5

p.A242V

c.725C>T

1 paper

NM_000887.5

p.L239S

c.716T>C