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.N373_S382Fs

c.1118_1145delinsCGTTTAFs

Surrounding Variants

1 paper

NM_004327.4

p.Q372H

c.1116G>T

1 paper

NM_004327.4

p.N373_Q376delFs

c.1118_1127del10

1 paper

NM_004327.4

p.S374_S380delFs

c.1121_1139del19

1 paper

NM_004327.4

p.S374_S381delFs

c.1121_1142del22

1 paper

NM_004327.4

p.S374_P383delFs

c.1121_1148del28

1 paper

NM_004327.4

p.Q372delFs

c.1116delG

2 papers

NM_004327.4

p.N373_D379delFs

c.1118_1136del19

1 paper

NM_004327.4

p.Q372_S382delFs

c.1116_1146del31

1 paper

NM_004327.4

p.S374W

c.1121C>G

1 paper

NM_004327.4

p.S374delFs

c.1122delG

1 paper

NM_004327.4

p.S374_Q375delFs

c.1122_1125del4

1 paper

NM_004327.4

p.S374_Q375Fs

c.1120_1125delinsTGCGTFs