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.C311R

c.931T>C

Surrounding Variants

1 paper

NM_000889.3

p.L318F

c.952C>T

1 paper

NM_000889.3

p.A351delFs

c.1052delG

1 paper

NM_000889.3

p.P354P

c.1062T>C

1 paper

NM_000889.3

p.V355fs

c.1063_1064fs

1 paper

NM_000889.3

p.V355_Y356delFs

c.1063_1066del4

1 paper

NM_000889.3

p.S250N

c.749G>A

1 paper

NM_000889.3

p.T236S

c.706A>T

1 paper

NM_000889.3

p.V368A

c.1103T>C

1 paper

NM_000889.3

p.R219W

c.655C>T

1 paper

NM_000889.3

p.R213G

c.637C>G

1 paper

NM_000889.3

p.R213S

c.637C>A

1 paper

NM_000889.3

p.T200M

c.599C>T