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

Selected Variant

2 papers

NM_002209.3

p.R133H

c.398G>A

Surrounding Variants

1 paper

NM_002209.3

p.Q134Q

c.402G>A

1 paper

NM_002209.3

p.S126delFs

c.378delT

1 paper

NM_002209.3

p.M140_L141delFs

c.420_421delGC

1 paper

NM_002209.3

p.Y124H

c.370T>C

1 paper

NM_002209.3

p.Y124delFs

c.370delT

1 paper

NM_002209.3

p.R144C

c.430C>T

1 paper

NM_002209.3

p.R144H

c.431G>A

1 paper

NM_002209.3

p.P145L

c.434C>T

1 paper

NM_002209.3

p.D120A

c.359A>C

1 paper

NM_002209.3

p.G146D

c.437G>A

1 paper

NM_002209.3

p.Q148E

c.442C>G

1 paper

NM_002209.3

p.E149A

c.446A>C