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

3 papers

NM_002214.3

p.A459T

c.1375G>A

Surrounding Variants

1 paper

NM_002214.3

p.D440N

c.1318G>A

1 paper

NM_002214.3

p.C481Y

c.1442G>A

1 paper

NM_002214.3

p.E503*

c.1507G>T

1 paper

NM_002214.3

p.Y542C

c.1625A>G

1 paper

NM_002214.3

p.G543*

c.1627G>T

1 paper

NM_002214.3

p.S552F

c.1655C>T

1 paper

NM_002214.3

p.L560M

c.1678C>A

1 paper

NM_002214.3

p.F401C

c.1202T>G

1 paper

NM_002214.3

p.V608M

c.1822G>A

1 paper

NM_002214.3

p.E613E

c.1839G>A

2 papers

NM_002214.3

p.R622H

c.1865G>A

1 paper

NM_002214.3

p.C624*

c.1872T>A