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.Y47N

c.139T>A

Surrounding Variants

1 paper

NM_002209.3

p.A41G

c.122C>G

1 paper

NM_002209.3

p.G53R

c.157G>A

1 paper

NM_002209.3

p.G53R

c.157G>C

1 paper

NM_002209.3

p.P39P

c.117G>A

2 papers

NM_002209.3

p.S35G

c.103A>G

1 paper

NM_002209.3

p.G32A

c.95G>C

1 paper

NM_002209.3

p.R31R

c.93G>A

1 paper

NM_002209.3

p.D29E

c.87C>A

1 paper

NM_002209.3

p.D29E

c.87C>G

2 papers

NM_002209.3

p.L28Q

c.83T>A

1 paper

NM_002209.3

p.S25T

c.74G>C

1 paper

NM_002209.3

p.S69G

c.205A>G