Varaico: Literature-Extracted Genetic Variants

ITGB6

91 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 22–71UCSCIntegrin plexin domain

Integrin_betaaa 128–375UCSCIntegrin beta chain VWA domain

I-EGF_1aa 456–485UCSCIntegrin beta epidermal growth factor like domain 1

EGF_integrinaa 496–538UCSCIntegrin EGF domain

EGF_2aa 544–574UCSCEGF-like domain

EGF_2aa 583–614UCSCEGF-like domain

Gene Aliases

HGNC Name

integrin subunit beta 6

HGNC Previous Name

integrin, beta 6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000888.5

p.H294Q

c.882C>G

Surrounding Variants

1 paper

NM_000888.5

p.H294Q

c.882C>A

1 paper

NM_000888.5

p.G291R

c.871G>C

1 paper

NM_000888.5

p.G291R

c.871G>A

1 paper

NM_000888.5

p.N299insFs

c.896_897insT

4 papers

NM_000888.5

p.E300K

c.898G>A

2 papers

NM_000888.5

p.V286A

c.857T>C

1 paper

NM_000888.5

p.V306L

c.916G>C

1 paper

NM_000888.5

p.L282V

c.844C>G

6 papers

NM_000888.5

p.H275Q

c.825T>G

6 papers

NM_000888.5

p.H275Q

c.825T>A

1 paper

NM_000888.5

p.L263I

c.787C>A

1 paper

NM_000888.5

p.R259Q

c.776G>A