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

Selected Variant

1 paper

NM_002214.3

p.G121R

c.361G>C

Surrounding Variants

1 paper

NM_002214.3

p.G121R

c.361G>A

1 paper

NM_002214.3

p.G130Splc

c.388+8C>A

1 paper

NM_002214.3

p.D97E

c.291T>A

1 paper

NM_002214.3

p.D97E

c.291T>G

1 paper

NM_002214.3

p.V96A

c.287T>C

1 paper

NM_002214.3

p.S95*

c.284C>G

1 paper

NM_002214.3

p.R82H

c.245G>A

1 paper

NM_002214.3

p.D72G

c.215A>G

1 paper

NM_002214.3

p.Q70*

c.208C>T

1 paper

NM_002214.3

p.N51Y

c.151A>T

1 paper

NM_002214.3

p.S50*

c.149C>A

1 paper

NM_002214.3

p.S50*

c.149C>G