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.A13S

c.37G>T

Surrounding Variants

1 paper

NM_004327.4

p.A13E

c.38C>A

1 paper

NM_004327.4

p.A13G

c.38C>G

1 paper

NM_004327.4

p.K12N

c.36G>C

1 paper

NM_004327.4

p.K12N

c.36G>T

1 paper

NM_004327.4

p.A13delFs

c.37_38delGC

1 paper

NM_004327.4

p.K12R

c.35A>G

1 paper

NM_004327.4

p.A13A

c.39G>A

1 paper

NM_004327.4

p.K12Q

c.34A>C

1 paper

NM_004327.4

p.K12*

c.34A>T

2 papers

NM_004327.4

p.W11*

c.33G>A

1 paper

NM_004327.4

p.W11*

c.32G>A

1 paper

NM_004327.4

p.W11L

c.32G>T