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.V5L

c.13G>T

Surrounding Variants

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

1 paper

NM_004327.4

p.V5A

c.14T>C

1 paper

NM_004327.4

p.G6insFs

c.16_17insG

1 paper

NM_004327.4

p.G6C

c.16G>T

1 paper

NM_004327.4

p.G6fs

c.16_17fs

1 paper

NM_004327.4

p.G6_F7delFs

c.17_21del5

1 paper

NM_004327.4

p.P4delFs

c.10delC

1 paper

NM_004327.4

p.G6G

c.18C>A

1 paper

NM_004327.4

p.D3insFs

c.7_8insA

1 paper

NM_004327.4

p.F7L

c.19T>C