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

26 papers

NM_004327.4

p.Y177F

c.530A>T

Surrounding Variants

1 paper

NM_004327.4

p.V178E

c.533T>A

1 paper

NM_004327.4

p.F176V

c.526T>G

1 paper

NM_004327.4

p.N179S

c.536A>G

1 paper

NM_004327.4

p.N179I

c.536A>T

2 papers

NM_004327.4

p.N179delFs

c.537delC

1 paper

NM_004327.4

p.K174_P175insFs

c.522_523insC

1 paper

NM_004327.4

p.E173_Y177delFs

c.519_529del11

1 paper

NM_004327.4

p.E173insFs

c.518_519ins11

1 paper

NM_004327.4

p.F182delFs

c.545_546delTT

1 paper

NM_004327.4

p.H183delFs

c.549delC

1 paper

NM_004327.4

p.D171N

c.511G>A

1 paper

NM_004327.4

p.H184Q

c.552C>A