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.R96H

c.287G>A

Surrounding Variants

1 paper

NM_004327.4

p.R96_P97ins9

c.286_290ins27

2 papers

NM_004327.4

p.P97T

c.289C>A

1 paper

NM_004327.4

p.S95S

c.285G>C

1 paper

NM_004327.4

p.S95*

c.284C>A

1 paper

NM_004327.4

p.S95W

c.284C>G

1 paper

NM_004327.4

p.S95L

c.284C>T

1 paper

NM_004327.4

p.P97P

c.291G>T

1 paper

NM_004327.4

p.Q98_P99delFs

c.294_297del4

1 paper

NM_004327.4

p.S95_P97del0

c.284_289del6

1 paper

NM_004327.4

p.S95_D103del0

c.284_307del24

1 paper

NM_004327.4

p.Q98insFs

c.293_294ins35

1 paper

NM_004327.4

p.Q98P

c.293A>C