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

10 papers

NM_000887.5

p.P517R

c.1550C>G

Surrounding Variants

1 paper

NM_000887.5

p.P517S

c.1549C>T

1 paper

NM_000887.5

p.H516Y

c.1546C>T

1 paper

NM_000887.5

p.G522G

c.1566G>A

1 paper

NM_000887.5

p.G529insFs

c.1585_1586insC

1 paper

NM_000887.5

p.G529W

c.1585G>T

1 paper

NM_000887.5

p.G529G

c.1587G>T

1 paper

NM_000887.5

p.R502S

c.1506A>C

1 paper

NM_000887.5

p.R502S

c.1506A>T

1 paper

NM_000887.5

p.R502fs

c.1504_1505fs

1 paper

NM_000887.5

p.D534E

c.1602C>A

1 paper

NM_000887.5

p.K535Q

c.1603A>C

2 papers

NM_000887.5

p.E547K

c.1639G>A