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.M287_M288insFs

c.860_863dup4

Surrounding Variants

1 paper

NM_004327.4

p.M287L

c.859A>C

1 paper

NM_004327.4

p.M287L

c.859A>T

1 paper

NM_004327.4

p.M288V

c.862A>G

1 paper

NM_004327.4

p.G286fs

c.856_857fs

1 paper

NM_004327.4

p.M288K

c.863T>A

1 paper

NM_004327.4

p.G285_M287delFs

c.855_861del7

1 paper

NM_004327.4

p.E289G

c.866A>G

1 paper

NM_004327.4

p.G286delFs

c.857delG

1 paper

NM_004327.4

p.V284I

c.850G>A

2 papers

NM_004327.4

p.G290R

c.868G>C

1 paper

NM_004327.4

p.V284delFs

c.851_852delTC

1 paper

NM_004327.4

p.Y283Y

c.849C>T