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.F158S

c.473T>C

Surrounding Variants

1 paper

NM_004327.4

p.E159*

c.475G>T

1 paper

NM_004327.4

p.N157T

c.470A>C

2 papers

NM_004327.4

p.N157S

c.470A>G

1 paper

NM_004327.4

p.N157delFs

c.471delC

1 paper

NM_004327.4

p.N157_F158ins10

c.469_473ins30

1 paper

NM_004327.4

p.N157_F158ins0

c.469_474dup6

1 paper

NM_004327.4

p.R160R

c.480G>A

2 papers

NM_004327.4

p.R155K

c.464G>A

2 papers

NM_004327.4

p.I161I

c.483C>A

1 paper

NM_004327.4

p.R162R

c.486C>T

1 paper

NM_004327.4

p.A153_L154Fs

c.459_461delinsTTFs

1 paper

NM_004327.4

p.K163M

c.488A>T