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.Y316F

c.947A>T

Surrounding Variants

1 paper

NM_004327.4

p.S317insFs

c.949_950ins10

3 papers

NM_004327.4

p.S317T

c.949T>A

1 paper

NM_004327.4

p.S317P

c.949T>C

1 paper

NM_004327.4

p.S317A

c.949T>G

2 papers

NM_004327.4

p.S317insFs

c.949_950insC

11 papers

NM_004327.4

p.S315F

c.944C>T

5 papers

NM_004327.4

p.S317S

c.951C>A

5 papers

NM_004327.4

p.S317S

c.951C>G

1 paper

NM_004327.4

p.S315_Y316insFs

c.945_946insC

1 paper

NM_004327.4

p.Y316_P318del3

c.946_953del9

1 paper

NM_004327.4

p.P318insFs

c.952_953insA

1 paper

NM_004327.4

p.P318H

c.953C>A