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.S301_K307del7

c.901_920del21

Surrounding Variants

3 papers

NM_004327.4

p.Q300R

c.899A>G

1 paper

NM_004327.4

p.Q300del1

c.898_900delCAG

2 papers

NM_004327.4

p.Q300H

c.900G>C

2 papers

NM_004327.4

p.Q300H

c.900G>T

1 paper

NM_004327.4

p.S301_S303delFs

c.902_909del8

1 paper

NM_004327.4

p.S301delFs

c.903delC

2 papers

NM_004327.4

p.R298G

c.892C>G

1 paper

NM_004327.4

p.S303P

c.907T>C

1 paper

NM_004327.4

p.L296L

c.888C>A

1 paper

NM_004327.4

p.L296_K307delFs

c.888_919del32

3 papers

NM_004327.4

p.E304K

c.910G>A

2 papers

NM_004327.4

p.E304*

c.910G>T