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.S236*

c.707C>A

Surrounding Variants

1 paper

NM_004327.4

p.S236W

c.707C>G

1 paper

NM_004327.4

p.S235F

c.704C>T

1 paper

NM_004327.4

p.E237E

c.711G>A

1 paper

NM_004327.4

p.R234_S235insFs

c.702_703insCG

2 papers

NM_004327.4

p.R234H

c.701G>A

1 paper

NM_004327.4

p.G233V

c.698G>T

1 paper

NM_004327.4

p.G233R

c.697G>A

1 paper

NM_004327.4

p.G233R

c.697G>C

1 paper

NM_004327.4

p.R232R

c.696G>A

4 papers

NM_004327.4

p.C240Y

c.719G>A

2 papers

NM_004327.4

p.C240S

c.719G>C

1 paper

NM_004327.4

p.R232_C240delFs

c.696_720del25