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.A115_D118delFs

c.344_354del11

Surrounding Variants

1 paper

NM_004327.4

p.A115T

c.343G>A

1 paper

NM_004327.4

p.A115P

c.343G>C

1 paper

NM_004327.4

p.A115_P117delFs

c.344_351del8

1 paper

NM_004327.4

p.P113L

c.338C>T

1 paper

NM_004327.4

p.P113fs

c.337_338fs

1 paper

NM_004327.4

p.P113A

c.337C>G

1 paper

NM_004327.4

p.P113S

c.337C>T

1 paper

NM_004327.4

p.P117_D118insFs

c.351_352ins4

1 paper

NM_004327.4

p.P117L

c.350C>T

1 paper

NM_004327.4

p.E112G

c.335A>G

1 paper

NM_004327.4

p.E112V

c.335A>T

1 paper

NM_004327.4

p.E111delins

c.332_333delinsTA