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.Q376_F378Fs

c.1127_1132delinsTTTGCFs

Surrounding Variants

1 paper

NM_004327.4

p.Q376_S377Fs

c.1127_1129delinsTTTGCFs

1 paper

NM_004327.4

p.Q376E

c.1126C>G

1 paper

NM_004327.4

p.Q376_S377Fs

c.1126_1131delinsTGCGTFs

1 paper

NM_004327.4

p.Q376_S382delFs

c.1127_1145del19

1 paper

NM_004327.4

p.Q376Q

c.1128G>A

1 paper

NM_004327.4

p.Q375_Q376insFs

c.1125_1126ins11

1 paper

NM_004327.4

p.Q376_P383delFs

c.1126_1148del23

1 paper

NM_004327.4

p.S377_D379Fs

c.1129_1135delinsCTTTGCGTAFs

1 paper

NM_004327.4

p.S377_S380Fs

c.1129_1139delinsCTCTGCCTCCFs

1 paper

NM_004327.4

p.S377_S380Fs

c.1129_1139delinsCTCTGTCFs

2 papers

NM_004327.4

p.Q375_S382delFs

c.1125_1146del22

1 paper

NM_004327.4

p.S377F

c.1130C>T