Varaico: Literature-Extracted Genetic Variants

BCR

1,586 papers

RefSeq Summary

A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this ...

Pfam Domains

Bcr-Abl_Oligoaa 3–75UCSCBcr-Abl oncoprotein oligomerisation domain

RhoGEFaa 502–689UCSCRhoGEF domain

PH_19aa 697–823UCSCPH domain

C2aa 911–1018UCSCC2 domain

RhoGAPaa 1068–1216UCSCRhoGAP domain

Gene Aliases

HGNC Name

BCR activator of RhoGEF and GTPase

HGNC Previous Symbols

D22S11; BCR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004327.4

p.G294_L297del4

c.880_890del12

Surrounding Variants

1 paper

NM_004327.4

p.G294delFs

c.880delG

2 papers

NM_004327.4

p.G294S

c.880G>A

1 paper

NM_004327.4

p.G294R

c.880G>C

1 paper

NM_004327.4

p.E291K

c.871G>A

1 paper

NM_004327.4

p.G290E

c.869G>A

1 paper

NM_004327.4

p.L296_K307delFs

c.888_919del32

1 paper

NM_004327.4

p.L296L

c.888C>A

2 papers

NM_004327.4

p.G290R

c.868G>C

1 paper

NM_004327.4

p.E289G

c.866A>G

2 papers

NM_004327.4

p.R298G

c.892C>G

1 paper

NM_004327.4

p.M288K

c.863T>A

1 paper

NM_004327.4

p.M288V

c.862A>G