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

1–12 of 158 variants

8 papers

NM_002207.3

p.G507E

c.1520G>A

6 papers

NM_002207.3

p.D94A

c.281A>C

4 papers

NM_002207.3

p.G404S

c.1210G>A

3 papers

NM_002207.3

p.A5S

c.13G>T

3 papers

NM_002207.3

p.H155D

c.463C>G

3 papers

NM_002207.3

p.T175M

c.524C>T

3 papers

NM_002207.3

p.L908V

c.2722C>G

2 papers

NM_002207.3

p.L20Q

c.59T>A

2 papers

NM_002207.3

p.N314I

c.941A>T

2 papers

NM_002207.3

p.N493N

c.1479C>T

2 papers

NM_002207.3

p.Q632R

c.1895A>G

2 papers

NM_002207.3

p.R750C

c.2248C>T