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.D581E

c.1743C>G

Surrounding Variants

1 paper

NM_000888.5

p.G593R

c.1777G>C

1 paper

NM_000888.5

p.G593R

c.1777G>A

1 paper

NM_000888.5

p.R566S

c.1698G>T

1 paper

NM_000888.5

p.R566S

c.1698G>C

1 paper

NM_000888.5

p.G561A

c.1682G>C

1 paper

NM_000888.5

p.G554Splc

c.1661-3C>G

1 paper

NM_000888.5

p.P612L

c.1835C>T

8 papers

NM_000888.5

p.R616*

c.1846C>T

1 paper

NM_000888.5

p.C617R

c.1849T>C

1 paper

NM_000888.5

p.H634Q

c.1902C>G

1 paper

NM_000888.5

p.H634Q

c.1902C>A

1 paper

NM_000888.5

p.R642*

c.1924C>T