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.K802fs

c.2404_2405fs

Surrounding Variants

1 paper

NM_004327.4

p.E801_K802insFs

c.2403_2404dupGA

1 paper

NM_004327.4

p.I798fs

c.2392_2393fs

1 paper

NM_004327.4

p.N796K

c.2388T>A

1 paper

NM_004327.4

p.N796K

c.2388T>G

1 paper

NM_004327.4

p.D797delFs

c.2389delG

15 papers

NM_004327.4

p.N796S

c.2387A>G

1 paper

NM_004327.4

p.K790_Q793delFs

c.2370_2379del10

1 paper

NM_004327.4

p.I789M

c.2367C>G

1 paper

NM_004327.4

p.A786T

c.2356G>A

1 paper

NM_004327.4

p.L784insFs

c.2352dupG

1 paper

NM_004327.4

p.L784_D785ins8

c.2350_2354ins24

1 paper

NM_004327.4

p.D781insFs

c.2341_2342insC