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

1–12 of 179 variants

10 papers

NM_000887.5

p.P517R

c.1550C>G

10 papers

NM_000887.5

p.V600E

c.1799T>A

3 papers

NM_000887.5

p.R685H

c.2054G>A

3 papers

NM_000887.5

p.A1012V

c.3035C>T

2 papers

NM_000887.5

p.M1I

c.3G>A

2 papers

NM_000887.5

p.V41A

c.122T>C

2 papers

NM_000887.5

p.L106_A107Splc

c.319-6C>A

2 papers

NM_000887.5

p.I232T

c.695T>C

2 papers

NM_000887.5

p.V236Splc

c.707+1G>A

2 papers

NM_000887.5

p.R248W

c.742A>T

2 papers

NM_000887.5

p.A251T

c.751G>A

2 papers

NM_000887.5

p.I281delFs

c.843delC