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.P4delFs

c.10delC

Surrounding Variants

1 paper

NM_004327.4

p.D3insFs

c.7_8insA

1 paper

NM_004327.4

p.V2_D3insFs

c.6_7insC

1 paper

NM_004327.4

p.V2A

c.5T>C

1 paper

NM_004327.4

p.V2G

c.5T>G

3 papers

NM_004327.4

p.P4P

c.12G>A

6 papers

NM_004327.4

p.P4P

c.12G>C

1 paper

NM_004327.4

p.P4P

c.12G>T

4 papers

NM_004327.4

p.M1I

c.3G>A

3 papers

NM_004327.4

p.M1I

c.3G>C

1 paper

NM_004327.4

p.M1_V2insFs

c.3_4insA

4 papers

NM_004327.4

p.M1I

c.3G>T

1 paper

NM_004327.4

p.V5L

c.13G>T