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.Y753C

c.2258A>G

Surrounding Variants

1 paper

NM_000889.3

p.Y758fs

c.2272_2273fs

1 paper

NM_000889.3

p.R760H

c.2279G>A

1 paper

NM_000889.3

p.F761V

c.2281T>G

1 paper

NM_000889.3

p.F761C

c.2282T>G

1 paper

NM_000889.3

p.L768H

c.2303T>A

1 paper

NM_000889.3

p.W770R

c.2308T>C

1 paper

NM_000889.3

p.W770R

c.2308T>A

1 paper

NM_000889.3

p.N775D

c.2323A>G

1 paper

NM_000889.3

p.R789C

c.2365C>T

1 paper

NM_000889.3

p.A706T

c.2116G>A

1 paper

NM_000889.3

p.I682L

c.2044A>C

2 papers

NM_000889.3

p.H672Y

c.2014C>T