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

2 papers

NM_004327.4

p.R26S

c.76C>A

Surrounding Variants

1 paper

NM_004327.4

p.R26H

c.77G>A

1 paper

NM_004327.4

p.L25Q

c.74T>A

1 paper

NM_004327.4

p.S27S

c.81A>T

1 paper

NM_004327.4

p.V28del1

c.82_83delGTG

1 paper

NM_004327.4

p.V28L

c.82G>T

1 paper

NM_004327.4

p.E24delFs

c.71delA

1 paper

NM_004327.4

p.M23I

c.69G>A

1 paper

NM_004327.4

p.V28A

c.83T>C

1 paper

NM_004327.4

p.M23L

c.67A>T

1 paper

NM_004327.4

p.G29insFs

c.85_86insT

1 paper

NM_004327.4

p.M23_E24del2

c.67_71del6

1 paper

NM_004327.4

p.D30_E32del0

c.88_96del9