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.V223L

c.667G>C

Surrounding Variants

1 paper

NM_004327.4

p.V223L

c.667G>T

1 paper

NM_004327.4

p.S222R

c.666C>A

1 paper

NM_004327.4

p.S222R

c.666C>G

1 paper

NM_004327.4

p.V223G

c.668T>G

1 paper

NM_004327.4

p.G224_S227del4

c.670_680del12

1 paper

NM_004327.4

p.S222ins3

c.664_665ins9

1 paper

NM_004327.4

p.S222R

c.664A>C

1 paper

NM_004327.4

p.G224E

c.671G>A

1 paper

NM_004327.4

p.S222insFs

c.664_665ins10

1 paper

NM_004327.4

p.S222delFs

c.664delA

2 papers

NM_004327.4

p.D225V

c.674A>T

3 papers

NM_004327.4

p.G220V

c.659G>T