Varaico: Literature-Extracted Genetic Variants

Gene:ITGB8
Variant:p.C2R

ITGB8

67 papers

RefSeq Summary

This gene is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alph...

Pfam Domains

PSI_integrinaa 45–95UCSCIntegrin plexin domain
Integrin_betaaa 142–388UCSCIntegrin beta chain VWA domain
EGF_integrinaa 505–547UCSCIntegrin EGF domain
EGF_Teneurinaa 558–586UCSCTeneurin-like EGF domain

Gene Aliases

HGNC Name

integrin subunit beta 8

HGNC Previous Name

integrin, beta 8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002214.3
p.C2R
c.4T>C
Surrounding Variants
1 paper
NM_002214.3
p.F33C
c.98T>G
1 paper
NM_002214.3
p.E43A
c.128A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."