Varaico: Literature-Extracted Genetic Variants

ITGB2

425 papers

RefSeq Summary

This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in ...

Pfam Domains

PSI_integrinaa 23–74UCSCIntegrin plexin domain

Integrin_betaaa 122–367UCSCIntegrin beta chain VWA domain

EGF_integrinaa 491–535UCSCIntegrin EGF domain

Integrin_B_tailaa 620–699UCSCIntegrin beta tail domain

Integrin_b_cytaa 724–766UCSCIntegrin beta cytoplasmic domain

Gene Aliases

HGNC Name

integrin subunit beta 2

HGNC Previous Symbol

MFI7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000211.5

p.C598insFs

c.1794dupC

Surrounding Variants

2 papers

NM_000211.5

p.N599fs

c.1795_1796fs

1 paper

NM_000211.5

p.C598F

c.1793G>T

2 papers

NM_000211.5

p.V600fs

c.1798_1799fs

1 paper

NM_000211.5

p.V600delFs

c.1798delC

2 papers

NM_000211.5

p.C601F

c.1802G>T

2 papers

NM_000211.5

p.C596*

c.1788C>A

1 paper

NM_000211.5

p.S605A

c.1813T>G

18 papers

NM_000211.5

p.R593C

c.1777C>T

3 papers

NM_000211.5

p.Y607*

c.1821C>G

4 papers

NM_000211.5

p.Y607*

c.1821C>A

8 papers

NM_000211.5

p.C590R

c.1768T>C

4 papers

NM_000211.5

p.Q608*

c.1822C>T