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.E211K

c.631G>A

Surrounding Variants

1 paper

NM_004327.4

p.M210K

c.629T>A

1 paper

NM_004327.4

p.Q209H

c.627G>C

1 paper

NM_004327.4

p.Q209H

c.627G>T

1 paper

NM_004327.4

p.K213R

c.638A>G

2 papers

NM_004327.4

p.M208I

c.624G>A

1 paper

NM_004327.4

p.M208T

c.623T>C

1 paper

NM_004327.4

p.S215delFs

c.643delT

1 paper

NM_004327.4

p.A207P

c.619G>C

1 paper

NM_004327.4

p.A207delFs

c.620_621delCC

1 paper

NM_004327.4

p.S215P

c.643T>C

3 papers

NM_004327.4

p.S215F

c.644C>T

2 papers

NM_004327.4

p.Q216*

c.646C>T