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.C324S

c.970T>A

Surrounding Variants

1 paper

NM_004327.4

p.C324R

c.970T>C

1 paper

NM_004327.4

p.C324Y

c.971G>A

1 paper

NM_004327.4

p.C324S

c.971G>C

1 paper

NM_004327.4

p.D323E

c.969T>A

1 paper

NM_004327.4

p.D323E

c.969T>G

1 paper

NM_004327.4

p.D323_C324delins

c.969_970delinsCA

1 paper

NM_004327.4

p.E322G

c.965A>G

1 paper

NM_004327.4

p.G326insFs

c.977_978insC

2 papers

NM_004327.4

p.G327R

c.979G>C

1 paper

NM_004327.4

p.G327G

c.981C>G

1 paper

NM_004327.4

p.F321_E322insFs

c.963_964insTT

7 papers

NM_004327.4

p.Y328F

c.983A>T