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.S369_P383Fs

c.1105_1147delinsAGGAGGCAAFs

Surrounding Variants

1 paper

NM_004327.4

p.S369A

c.1105T>G

1 paper

NM_004327.4

p.S369_P383Fs

c.1105_1148delinsAGGAGGCAGTFs

4 papers

NM_004327.4

p.S369C

c.1106C>G

2 papers

NM_004327.4

p.S369_S380delFs

c.1105_1138del34

1 paper

NM_004327.4

p.R368_S382Fs

c.1103_1145delinsGGAGGAGGGFs

2 papers

NM_004327.4

p.R368L

c.1103G>T

1 paper

NM_004327.4

p.R368_D379Fs

c.1102_1137delinsCAFs

1 paper

NM_004327.4

p.R368_D379delFs

c.1104_1137del34

1 paper

NM_004327.4

p.P370_S380delFs

c.1108_1138del31

1 paper

NM_004327.4

p.P370_S381delFs

c.1108_1141del34

1 paper

NM_004327.4

p.P370_S382delFs

c.1108_1144del37

1 paper

NM_004327.4

p.P370S

c.1108C>T