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.E46G

c.137A>G

Surrounding Variants

1 paper

NM_004327.4

p.E46A

c.137A>C

5 papers

NM_004327.4

p.E46D

c.138G>C

7 papers

NM_004327.4

p.E46D

c.138G>T

1 paper

NM_004327.4

p.Q47_E48delFs

c.139_143del5

1 paper

NM_004327.4

p.Q47K

c.139C>A

1 paper

NM_004327.4

p.Q47delFs

c.140delA

1 paper

NM_004327.4

p.L45R

c.134T>G

1 paper

NM_004327.4

p.R44H

c.131G>A

1 paper

NM_004327.4

p.R44C

c.130C>T

1 paper

NM_004327.4

p.V49_N50del2

c.145_149del6

1 paper

NM_004327.4

p.R43R

c.129G>A

2 papers

NM_004327.4

p.V49A

c.146T>C