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.L228V

c.682T>G

Surrounding Variants

1 paper

NM_002209.3

p.M227I

c.681G>A

1 paper

NM_002209.3

p.M227I

c.681G>C

1 paper

NM_002209.3

p.M227I

c.681G>T

1 paper

NM_002209.3

p.L229R

c.686T>G

1 paper

NM_002209.3

p.H226P

c.677A>C

1 paper

NM_002209.3

p.T231A

c.691A>G

1 paper

NM_002209.3

p.A236S

c.706G>T

1 paper

NM_002209.3

p.A236V

c.707C>T

1 paper

NM_002209.3

p.D216A

c.647A>C

1 paper

NM_002209.3

p.A241T

c.721G>A

2 papers

NM_002209.3

p.A241Splc

c.722+1G>A

1 paper

NM_002209.3

p.R214Q

c.641G>A