Varaico: Literature-Extracted Genetic Variants

ITGB8

67 papers

RefSeq Summary

This gene is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alph...

Pfam Domains

PSI_integrinaa 45–95UCSCIntegrin plexin domain

Integrin_betaaa 142–388UCSCIntegrin beta chain VWA domain

EGF_integrinaa 505–547UCSCIntegrin EGF domain

EGF_Teneurinaa 558–586UCSCTeneurin-like EGF domain

Gene Aliases

HGNC Name

integrin subunit beta 8

HGNC Previous Name

integrin, beta 8

Papers

RefSeq ID

Protein change

DNA change

1–12 of 52 variants

3 papers

NM_002214.3

p.A459T

c.1375G>A

2 papers

NM_002214.3

p.P198_Y199insFs

c.594_595insC

2 papers

NM_002214.3

p.A363G

c.1088C>G

2 papers

NM_002214.3

p.R622H

c.1865G>A

1 paper

NM_002214.3

p.C2R

c.4T>C

1 paper

NM_002214.3

p.F33C

c.98T>G

1 paper

NM_002214.3

p.E43A

c.128A>C

1 paper

NM_002214.3

p.E43A

c.128A>C

1 paper

NM_002214.3

p.S50*

c.149C>A

1 paper

NM_002214.3

p.S50*

c.149C>G

1 paper

NM_002214.3

p.N51Y

c.151A>T

1 paper

NM_002214.3

p.Q70*

c.208C>T