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.L1120_A1121del0

c.3358_3363del6

Surrounding Variants

1 paper

NM_000887.5

p.A1121T

c.3361G>A

1 paper

NM_000887.5

p.A1121fs

c.3361_3362fs

2 papers

NM_000887.5

p.I1114T

c.3341T>C

1 paper

NM_000887.5

p.T1106P

c.3316A>C

1 paper

NM_000887.5

p.K1063E

c.3187A>G

1 paper

NM_000887.5

p.I1059T

c.3176T>C

1 paper

NM_000887.5

p.V1039I

c.3115G>A

1 paper

NM_000887.5

p.R1029Q

c.3086G>A

1 paper

NM_000887.5

p.R1135H

c.3404G>A

1 paper

NM_000887.5

p.Q1155*

c.3463C>T

2 papers

NM_000887.5

p.V1019M

c.3055G>A

3 papers

NM_000887.5

p.A1012V

c.3035C>T