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.K65N

c.195G>C

Surrounding Variants

1 paper

NM_004327.4

p.K65N

c.195G>T

1 paper

NM_004327.4

p.K65R

c.194A>G

2 papers

NM_004327.4

p.K65*

c.193A>T

1 paper

NM_004327.4

p.E66V

c.197A>T

1 paper

NM_004327.4

p.A64T

c.190G>A

1 paper

NM_004327.4

p.K67K

c.201G>A

1 paper

NM_004327.4

p.K68_D71del0

c.204_212del9

1 paper

NM_004327.4

p.L63M

c.187C>A

1 paper

NM_004327.4

p.L63fs

c.187_188fs

1 paper

NM_004327.4

p.L63insFs

c.188_189ins4

2 papers

NM_004327.4

p.S69_D71del3

c.205_212del9

1 paper

NM_004327.4

p.L62*

c.185T>A