Varaico: Literature-Extracted Genetic Variants

ITGA9

194 papers

RefSeq Summary

This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane glycoproteins composed of an alpha chain and a beta chain that mediate cell-cell and cell-matrix adhesion. The protei...

Pfam Domains

FG-GAPaa 304–341UCSCFG-GAP repeat

FG-GAPaa 364–399UCSCFG-GAP repeat

Integrin_A_Ig_1aa 459–619UCSCIntegrin alpha Ig-like domain 1

Integrin_A_Ig_2aa 620–765UCSCIntegrin alpha Ig-like domain 2

Integrin_A_Ig_3aa 771–968UCSCIntegrin alpha Ig-like domain 3

Gene Aliases

HGNC Name

integrin subunit alpha 9

HGNC Alias Symbols

RLC; ITGA4L; ALPHA-RLC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002207.3

p.E697G

c.2090A>G

Surrounding Variants

1 paper

NM_002207.3

p.M692T

c.2075T>C

1 paper

NM_002207.3

p.F703ins1

c.2107_2108insAGG

1 paper

NM_002207.3

p.V708M

c.2122G>A

1 paper

NM_002207.3

p.P711S

c.2131C>T

1 paper

NM_002207.3

p.K718_Y719Splc

c.2155-2A>T

1 paper

NM_002207.3

p.E734fs

c.2200_2201fs

2 papers

NM_002207.3

p.R750C

c.2248C>T

1 paper

NM_002207.3

p.R750H

c.2249G>A

1 paper

NM_002207.3

p.V763M

c.2287G>A

1 paper

NM_002207.3

p.S772F

c.2315C>T