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.S157C

c.470C>G

Surrounding Variants

1 paper

NM_000888.5

p.D148V

c.443A>T

1 paper

NM_000888.5

p.S168N

c.503G>A

6 papers

NM_000888.5

p.A143T

c.427G>A

3 papers

NM_000888.5

p.G173R

c.517G>C

1 paper

NM_000888.5

p.D140A

c.419A>C

1 paper

NM_000888.5

p.V182I

c.544G>A

1 paper

NM_000888.5

p.Q127R

c.380A>G

1 paper

NM_000888.5

p.P190fs

c.568_569fs

7 papers

NM_000888.5

p.P196T

c.586C>A

1 paper

NM_000888.5

p.G116D

c.347G>A

1 paper

NM_000888.5

p.I110T

c.329T>C

1 paper

NM_000888.5

p.E76*

c.226G>T