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.L677fs

c.2029_2030fs

Surrounding Variants

1 paper

NM_000887.5

p.L677delFs

c.2031delG

1 paper

NM_000887.5

p.R685C

c.2053C>T

3 papers

NM_000887.5

p.R685H

c.2054G>A

1 paper

NM_000887.5

p.R689H

c.2066G>A

1 paper

NM_000887.5

p.Q693E

c.2077C>G

1 paper

NM_000887.5

p.R698Q

c.2093G>A

1 paper

NM_000887.5

p.R702*

c.2104C>T

1 paper

NM_000887.5

p.R704Q

c.2111G>A

1 paper

NM_000887.5

p.P720A

c.2158C>G

1 paper

NM_000887.5

p.R669S

c.2005C>A

1 paper

NM_000887.5

p.N653Y

c.1957A>T

1 paper

NM_000887.5

p.S652fs

c.1954_1955fs