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.V191I

c.571G>A

Surrounding Variants

1 paper

NM_004327.4

p.V191V

c.573C>T

2 papers

NM_004327.4

p.K190E

c.568A>G

3 papers

NM_004327.4

p.D193N

c.577G>A

1 paper

NM_004327.4

p.D193fs

c.577_578fs

1 paper

NM_004327.4

p.L188_V191delFs

c.564_573del10

1 paper

NM_004327.4

p.G187G

c.561C>T

1 paper

NM_004327.4

p.E195_S197del0

c.583_591del9

1 paper

NM_004327.4

p.E195delFs

c.584delA

1 paper

NM_004327.4

p.R186R

c.558C>A

1 paper

NM_004327.4

p.E185D

c.555G>C

1 paper

NM_004327.4

p.E185Q

c.553G>C

1 paper

NM_004327.4

p.E185_R186ins10

c.553_557ins30