Varaico: Literature-Extracted Genetic Variants

ITGBL1

43 papers

RefSeq Summary

This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in mul...

Pfam Domains

EGF_integrinaa 45–90UCSCIntegrin EGF domain

EGF_2aa 96–126UCSCEGF-like domain

EGF_2aa 136–167UCSCEGF-like domain

EGF_integrinaa 137–179UCSCIntegrin EGF domain

EGF_2aa 232–261UCSCEGF-like domain

EGF_2aa 278–312UCSCEGF-like domain

Gene Aliases

HGNC Name

integrin subunit beta like 1

HGNC Alias Symbol

TIED

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004791.3

p.A303V

c.908C>T

Surrounding Variants

1 paper

NM_004791.3

p.W305*

c.914G>A

1 paper

NM_004791.3

p.C335R

c.1003T>C