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

1–12 of 95 variants

8 papers

NM_000888.5

p.R616*

c.1846C>T

7 papers

NM_000888.5

p.P196T

c.586C>A

6 papers

NM_000888.5

p.A143T

c.427G>A

6 papers

NM_000888.5

p.H275Q

c.825T>G

6 papers

NM_000888.5

p.H275Q

c.825T>A

4 papers

NM_000888.5

p.E300K

c.898G>A

3 papers

NM_000888.5

p.N48I

c.143A>T

3 papers

NM_000888.5

p.G173R

c.517G>C

3 papers

NM_000888.5

p.V438M

c.1312G>A

3 papers

NM_000888.5

p.G470R

c.1408G>C

3 papers

NM_000888.5

p.G470R

c.1408G>A

2 papers

NM_000888.5

p.V286A

c.857T>C