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.R162R

c.486C>T

Surrounding Variants

1 paper

NM_004327.4

p.K163M

c.488A>T

2 papers

NM_004327.4

p.I161I

c.483C>A

2 papers

NM_004327.4

p.G164D

c.491G>A

1 paper

NM_004327.4

p.G164A

c.491G>C

1 paper

NM_004327.4

p.R160R

c.480G>A

1 paper

NM_004327.4

p.H165R

c.494A>G

2 papers

NM_004327.4

p.G166D

c.497G>A

1 paper

NM_004327.4

p.E159*

c.475G>T

1 paper

NM_004327.4

p.Q167_A170delFs

c.499_508del10

1 paper

NM_004327.4

p.F158S

c.473T>C

1 paper

NM_004327.4

p.N157T

c.470A>C

2 papers

NM_004327.4

p.N157S

c.470A>G