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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ITGB1BP1

ITGB1BP1

20 papers

RefSeq Summary

The cytoplasmic domains of integrins are essential for cell adhesion. The protein encoded by this gene binds to the beta1 integrin cytoplasmic domain. The interaction between this protein and beta1 in...

Pfam Domains

ICAP-1_inte_bdgaa 1–200UCSCBeta-1 integrin binding protein

Gene Aliases

HGNC Name

integrin subunit beta 1 binding protein 1

HGNC Alias Symbols

ICAP-1A; ICAP-1B; ICAP1; ICAP1A; ICAP1B; ICAP-1alpha

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 14 variants

2 papers

chr2:9414217 T>C

NM_004763.5

p.T38A

c.112A>G

ICAP-1_inte_bdg

exact variant not in gnomAD35 overlapping SVs

1 paper

chr2:9418690 C>T

NM_004763.5

p.R3H

c.8G>A

ICAP-1_inte_bdg

Exome: 0.0% (AC=37, hom=0)Genome: 0.0% (AC=2, hom=0)36 overlapping SVs

1 paper

chr2:9418674 TC>T

NM_004763.5

p.R8delFs

c.23delC

ICAP-1_inte_bdg

exact variant not in gnomAD36 overlapping SVs

1 paper

chr2:9418673 G>A

NM_004763.5

p.H9Y

c.25C>T

ICAP-1_inte_bdg

exact variant not in gnomAD36 overlapping SVs

1 paper

chr2:9418670 T>C

NM_004763.5

p.S10G

c.28A>G

ICAP-1_inte_bdg

Exome: 0.0% (AC=2, hom=0)Genome: n/a36 overlapping SVs

1 paper

chr2:9414256 A>C

NM_004763.5

p.S25A

c.73T>G

ICAP-1_inte_bdg

exact variant not in gnomAD35 overlapping SVs

1 paper

chr2:9414247 A>C

NM_004763.5

p.S28A

c.82T>G

ICAP-1_inte_bdg

exact variant not in gnomAD35 overlapping SVs

1 paper

chr2:9414202 C>T

NM_004763.5

p.D43N

c.127G>A

ICAP-1_inte_bdg

Exome: 0.0% (AC=8, hom=0)Genome: n/a35 overlapping SVs

1 paper

chr2:9412291 A>C

NM_004763.5

p.I89R

c.266T>G

ICAP-1_inte_bdg

exact variant not in gnomAD36 overlapping SVs

1 paper

chr2:9412211 C>T

NM_004763.5

p.Q96_Q97Splc

c.288+58G>A

exact variant not in gnomAD36 overlapping SVs

1 paper

chr2:9408144 T>C

NM_004763.5

p.Y117C

c.350A>G

ICAP-1_inte_bdg

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=1, hom=0)34 overlapping SVs

1 paper

chr2:9408126 G>A

NM_004763.5

p.T123I

c.368C>T

ICAP-1_inte_bdg

exact variant not in gnomAD34 overlapping SVs

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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."