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

Selected Variant

1 paper

NM_000889.3

p.M602T

c.1805T>C

Surrounding Variants

1 paper

NM_000889.3

p.A595G

c.1784C>G

1 paper

NM_000889.3

p.G617A

c.1850G>C

1 paper

NM_000889.3

p.R618C

c.1852C>T

1 paper

NM_000889.3

p.G629S

c.1885G>A

1 paper

NM_000889.3

p.C635*

c.1905C>A

1 paper

NM_000889.3

p.G576Splc

c.1727-66G>A

1 paper

NM_000889.3

p.D650E

c.1950C>G

1 paper

NM_000889.3

p.D650E

c.1950C>A

1 paper

NM_000889.3

p.E570K

c.1708G>A

1 paper

NM_000889.3

p.H569fs

c.1705_1706fs

2 papers

NM_000889.3

p.H672Y

c.2014C>T

1 paper

NM_000889.3

p.I682L

c.2044A>C