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.A87T

c.259G>A

Surrounding Variants

1 paper

NM_004327.4

p.G86G

c.258C>A

1 paper

NM_004327.4

p.A87D

c.260C>A

1 paper

NM_004327.4

p.S88_R96del9

c.262_287del27

1 paper

NM_004327.4

p.G86_A94ins3

c.258_281dup24

2 papers

NM_004327.4

p.G86R

c.256G>C

1 paper

NM_004327.4

p.G86_E89delFs

c.258_267del10

1 paper

NM_004327.4

p.G86delFs

c.256delG

1 paper

NM_004327.4

p.D85G

c.254A>G

1 paper

NM_004327.4

p.E89K

c.265G>A

1 paper

NM_004327.4

p.E89_P90insFs

c.267_268ins10

2 papers

NM_004327.4

p.P84S

c.250C>T

1 paper

NM_004327.4

p.P90P

c.270C>T