Varaico: Literature-Extracted Genetic Variants

ABR

50 papers

RefSeq Summary

This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein...

Pfam Domains

Bcr-Abl_Oligoaa 3–71UCSCBcr-Abl oncoprotein oligomerisation domain

RhoGEFaa 13–64UCSCRhoGEF domain

PH_19aa 75–194UCSCPH domain

RhoGEFaa 95–282UCSCRhoGEF domain

RhoGEFaa 354–541UCSCRhoGEF domain

Gene Aliases

HGNC Name

ABR activator of RhoGEF and GTPase

HGNC Alias Symbol

MDB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021962.5

p.T138A

c.412A>G

Surrounding Variants

1 paper

NM_021962.5

p.L157P

c.470T>C

1 paper

NM_021962.5

p.P116S

c.346C>T

1 paper

NM_021962.5

p.T169S

c.505A>T

1 paper

NM_021962.5

p.T169S

c.506C>G

1 paper

NM_021962.5

p.R92W

c.274A>T

1 paper

NM_021962.5

p.V83L

c.247G>T

1 paper

NM_021962.5

p.G82_V83Splc

c.247-2A>G