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

1–12 of 49 variants

2 papers

NM_004791.3

p.A303V

c.908C>T

1 paper

NM_004791.3

p.G5A

c.14G>C

1 paper

NM_004791.3

p.A13S

c.37G>T

1 paper

NM_004791.3

p.G20insFs

c.59_60ins34

1 paper

NM_004791.3

p.R33Splc

c.98+8T>C

1 paper

NM_004791.3

p.S47insFs

c.140dupC

1 paper

NM_004791.3

p.S47fs

c.139_140fs

1 paper

NM_004791.3

p.C51Y

c.152G>A

1 paper

NM_004791.3

p.R52P

c.155G>C

1 paper

NM_004791.3

p.A60T

c.178G>A

1 paper

NM_004791.3

p.A61S

c.181G>T

1 paper

NM_004791.3

p.L62fs

c.184_185fs