Varaico: Literature-Extracted Genetic Variants

ITGA8

153 papers

RefSeq Summary

Integrins are heterodimeric transmembrane receptor proteins that mediate numerous cellular processes including cell adhesion, cytoskeletal rearrangement, and activation of cell signaling pathways. Int...

Pfam Domains

FG-GAPaa 267–301UCSCFG-GAP repeat

FG-GAPaa 321–363UCSCFG-GAP repeat

FG-GAPaa 386–422UCSCFG-GAP repeat

Integrin_A_Ig_1aa 483–640UCSCIntegrin alpha Ig-like domain 1

Integrin_A_Ig_2aa 641–781UCSCIntegrin alpha Ig-like domain 2

Integrin_A_Ig_3aa 787–1002UCSCIntegrin alpha Ig-like domain 3

Gene Aliases

HGNC Name

integrin subunit alpha 8

HGNC Previous Name

integrin, alpha 8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003638.3

p.A785V

c.2354C>T

Surrounding Variants

1 paper

NM_003638.3

p.F774Y

c.2321T>A

1 paper

NM_003638.3

p.D771N

c.2311G>A

1 paper

NM_003638.3

p.R763*

c.2287A>T

1 paper

NM_003638.3

p.R748H

c.2243G>A

4 papers

NM_003638.3

p.R748C

c.2242C>T

1 paper

NM_003638.3

p.Y738F

c.2213A>T