Varaico: Literature-Extracted Genetic Variants

ITGAL

226 papers

RefSeq Summary

ITGAL encodes the integrin alpha L chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the ...

Pfam Domains

VWAaa 156–326UCSCvon Willebrand factor type A domain

FG-GAPaa 460–497UCSCFG-GAP repeat

FG-GAPaa 521–554UCSCFG-GAP repeat

Integrin_A_Ig_1aa 612–770UCSCIntegrin alpha Ig-like domain 1

Integrin_A_Ig_2aa 771–919UCSCIntegrin alpha Ig-like domain 2

Integrin_alphaaa 1113–1127UCSCIntegrin alpha cytoplasmic region

Gene Aliases

HGNC Name

integrin subunit alpha L

HGNC Previous Symbol

CD11A

Papers

RefSeq ID

Protein change

DNA change

1–12 of 196 variants

4 papers

NM_002209.3

p.R214W

c.640C>T

4 papers

NM_002209.3

p.R791T

c.2372G>C

3 papers

NM_002209.3

p.V8V

c.24G>T

3 papers

NM_002209.3

p.G441G

c.1323C>T

2 papers

NM_002209.3

p.L28Q

c.83T>A

2 papers

NM_002209.3

p.S35G

c.103A>G

2 papers

NM_002209.3

p.L109_A110Splc

c.328-6C>A

2 papers

NM_002209.3

p.R133H

c.398G>A

2 papers

NM_002209.3

p.A241Splc

c.722+1G>A

2 papers

NM_002209.3

p.R281delFs

c.843delC

2 papers

NM_002209.3

p.R568Q

c.1703G>A

2 papers

NM_002209.3

p.A858V

c.2573C>T