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

1 paper

NM_004791.3

p.S47insFs

c.140dupC

Surrounding Variants

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

1 paper

NM_004791.3

p.L62insFs

c.186dupG

1 paper

NM_004791.3

p.G65C

c.193G>T

1 paper

NM_004791.3

p.H77P

c.230A>C

1 paper

NM_004791.3

p.D100A

c.299A>C

1 paper

NM_004791.3

p.G101A

c.302G>C

1 paper

NM_004791.3

p.G106Splc

c.316+1G>T