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

2 papers

NM_004327.4

p.S380delFs

c.1139delG

Surrounding Variants

1 paper

NM_004327.4

p.S380R

c.1138A>C

1 paper

NM_004327.4

p.S380G

c.1138A>G

1 paper

NM_004327.4

p.D379_T385Fs

c.1137_1154delinsCCATCCTTGTCFs

1 paper

NM_004327.4

p.D379_S380insFs

c.1137_1138insCA

1 paper

NM_004327.4

p.S380insFs

c.1139_1140insTC

1 paper

NM_004327.4

p.S380R

c.1140C>A

1 paper

NM_004327.4

p.S380R

c.1140C>G

1 paper

NM_004327.4

p.S381delFs

c.1141delA

1 paper

NM_004327.4

p.S381fs

c.1141_1142fs

2 papers

NM_004327.4

p.D379N

c.1135G>A

1 paper

NM_004327.4

p.D379insFs

c.1135_1136insA

1 paper

NM_004327.4

p.D379insFs

c.1136_1137dupAC