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.S456P

c.1366T>C

Surrounding Variants

1 paper

NM_000887.5

p.I454L

c.1360A>C

1 paper

NM_000887.5

p.G459V

c.1376G>T

1 paper

NM_000887.5

p.S461S

c.1383C>G

1 paper

NM_000887.5

p.S464_V467delFs

c.1392_1401del10

1 paper

NM_000887.5

p.T473delFs

c.1418delC

1 paper

NM_000887.5

p.Q486insFs

c.1456_1457ins22

1 paper

NM_000887.5

p.C495Y

c.1484G>A

1 paper

NM_000887.5

p.T450M

c.1349C>T

1 paper

NM_000887.5

p.A447V

c.1340C>T

1 paper

NM_000887.5

p.R502fs

c.1504_1505fs

1 paper

NM_000887.5

p.R502S

c.1506A>C

1 paper

NM_000887.5

p.R502S

c.1506A>T