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.A138A

c.414G>C

Surrounding Variants

1 paper

NM_004327.4

p.A137insFs

c.410_411ins10

1 paper

NM_004327.4

p.A137G

c.410C>G

1 paper

NM_004327.4

p.G140E

c.419G>A

1 paper

NM_004327.4

p.G140A

c.419G>C

1 paper

NM_004327.4

p.A136_A137ins8

c.408_409ins24

1 paper

NM_004327.4

p.E141K

c.421G>A

1 paper

NM_004327.4

p.E141D

c.423A>C

1 paper

NM_004327.4

p.E141D

c.423A>T

2 papers

NM_004327.4

p.G135G

c.405G>C

1 paper

NM_004327.4

p.P134H

c.401C>A

1 paper

NM_004327.4

p.D143A

c.428A>C

1 paper

NM_004327.4

p.D144H

c.430G>C