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.D781insFs

c.2341_2342insC

Surrounding Variants

1 paper

NM_004327.4

p.P780L

c.2339C>T

1 paper

NM_004327.4

p.L784_D785ins8

c.2350_2354ins24

1 paper

NM_004327.4

p.L784insFs

c.2352dupG

1 paper

NM_004327.4

p.A786T

c.2356G>A

1 paper

NM_004327.4

p.V773A

c.2318T>C

1 paper

NM_004327.4

p.V773L

c.2317G>C

1 paper

NM_004327.4

p.V773L

c.2317G>T

1 paper

NM_004327.4

p.I789M

c.2367C>G

1 paper

NM_004327.4

p.A772P

c.2314G>C

1 paper

NM_004327.4

p.K790_Q793delFs

c.2370_2379del10

1 paper

NM_004327.4

p.D768insFs

c.2303_2304insG

1 paper

NM_004327.4

p.D768V

c.2303A>T