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.I232T

c.695T>C

Surrounding Variants

2 papers

NM_000887.5

p.V236Splc

c.707+1G>A

1 paper

NM_000887.5

p.V236Splc

c.707+29C>T

1 paper

NM_000887.5

p.V236Splc

c.707+45C>G

1 paper

NM_000887.5

p.N211T

c.632A>C

1 paper

NM_000887.5

p.S210*

c.629C>G

1 paper

NM_000887.5

p.R208H

c.623G>A

1 paper

NM_000887.5

p.K196I

c.587A>T

1 paper

NM_000887.5

p.M191I

c.573G>A

1 paper

NM_000887.5

p.R238Q

c.713G>A

1 paper

NM_000887.5

p.L239S

c.716T>C

1 paper

NM_000887.5

p.A242V

c.725C>T

1 paper

NM_000887.5

p.T169S

c.505A>T