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.T135S

c.403A>T

Surrounding Variants

1 paper

NM_000887.5

p.T135S

c.404C>G

1 paper

NM_000887.5

p.L134P

c.401T>C

1 paper

NM_000887.5

p.Q136*

c.406C>T

1 paper

NM_000887.5

p.L125P

c.374T>C

1 paper

NM_000887.5

p.L125I

c.373C>A

1 paper

NM_000887.5

p.T123I

c.368C>T

2 papers

NM_000887.5

p.L106_A107Splc

c.319-6C>A

1 paper

NM_000887.5

p.T99delFs

c.295delA

1 paper

NM_000887.5

p.A97S

c.289G>T

1 paper

NM_000887.5

p.S95delFs

c.284delC

1 paper

NM_000887.5

p.V83M

c.247G>A

1 paper

NM_000887.5

p.E77K

c.229G>A