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.L377M

c.1129C>A

Surrounding Variants

1 paper

NM_000888.5

p.L377L

c.1131G>A

1 paper

NM_000888.5

p.N396D

c.1186A>G

1 paper

NM_000888.5

p.T414_A415Splc

c.1243-11T>A

1 paper

NM_000888.5

p.V419V

c.1257G>A

1 paper

NM_000888.5

p.R429I

c.1286G>T

3 papers

NM_000888.5

p.V438M

c.1312G>A

2 papers

NM_000888.5

p.H469N

c.1405C>A

3 papers

NM_000888.5

p.G470R

c.1408G>C

3 papers

NM_000888.5

p.G470R

c.1408G>A

1 paper

NM_000888.5

p.G484G

c.1452C>A

2 papers

NM_000888.5

p.R489C

c.1465C>T

1 paper

NM_000888.5

p.E504K

c.1510G>A