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.V551L

c.1651G>C

Surrounding Variants

1 paper

NM_002209.3

p.V551L

c.1651G>T

1 paper

NM_002209.3

p.E547K

c.1639G>A

1 paper

NM_002209.3

p.E546K

c.1636G>A

1 paper

NM_002209.3

p.R557G

c.1669A>G

1 paper

NM_002209.3

p.G560delFs

c.1680delG

1 paper

NM_002209.3

p.S562insFs

c.1684dupA

1 paper

NM_002209.3

p.S562fs

c.1684_1685fs

1 paper

NM_002209.3

p.P563A

c.1687C>G

1 paper

NM_002209.3

p.V537L

c.1609G>C

1 paper

NM_002209.3

p.V537L

c.1609G>T

1 paper

NM_002209.3

p.G533S

c.1597G>A

1 paper

NM_002209.3

p.Q567_R568Splc

c.1701+5C>T