Varaico: Literature-Extracted Genetic Variants

ITGB7

52 papers

RefSeq Summary

This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins ...

Pfam Domains

PSI_integrinaa 43–92UCSCIntegrin plexin domain

Integrin_betaaa 147–393UCSCIntegrin beta chain VWA domain

EGF_2aa 605–635UCSCEGF-like domain

Integrin_b_cytaa 747–790UCSCIntegrin beta cytoplasmic domain

Gene Aliases

HGNC Name

integrin subunit beta 7

HGNC Previous Name

integrin, beta 7

Papers

RefSeq ID

Protein change

DNA change

1–12 of 64 variants

2 papers

NM_000889.3

p.H672Y

c.2014C>T

1 paper

NM_000889.3

p.A3D

c.8C>A

1 paper

NM_000889.3

p.V9A

c.26T>C

1 paper

NM_000889.3

p.G17V

c.50G>T

1 paper

NM_000889.3

p.W63*

c.188G>A

1 paper

NM_000889.3

p.W63*

c.189G>A

1 paper

NM_000889.3

p.A77A

c.231G>A

1 paper

NM_000889.3

p.R78Q

c.233G>A

1 paper

NM_000889.3

p.P92P

c.276G>A

1 paper

NM_000889.3

p.E98*

c.292G>T

1 paper

NM_000889.3

p.P110P

c.330G>A

1 paper

NM_000889.3

p.G114G

c.342C>T