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

1 paper

NM_002209.3

p.L420_A421del2

c.1258_1262del6

Surrounding Variants

1 paper

NM_002209.3

p.A421_S422insFs

c.1263_1264insC

1 paper

NM_002209.3

p.R414R

c.1242G>A

1 paper

NM_002209.3

p.R426Q

c.1277G>A

1 paper

NM_002209.3

p.Y427C

c.1280A>G

3 papers

NM_002209.3

p.G441G

c.1323C>T

1 paper

NM_002209.3

p.G442R

c.1324G>A

1 paper

NM_002209.3

p.G442R

c.1324G>C

1 paper

NM_002209.3

p.F460insFs

c.1378_1379insC

1 paper

NM_002209.3

p.E463K

c.1387G>A

1 paper

NM_002209.3

p.E476D

c.1428G>C

1 paper

NM_002209.3

p.E476D

c.1428G>T

1 paper

NM_002209.3

p.Q498*

c.1492C>T