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

5 papers

NM_004327.4

p.D365G

c.1094A>G

Surrounding Variants

1 paper

NM_004327.4

p.D365_S380delFs

c.1095_1140del46

1 paper

NM_004327.4

p.D365_S377delFs

c.1094_1130del37

1 paper

NM_004327.4

p.K366_S377delFs

c.1097_1130del34

1 paper

NM_004327.4

p.D365_Q376delFs

c.1093_1126del34

1 paper

NM_004327.4

p.D365_S380delFs

c.1094_1139del46

1 paper

NM_004327.4

p.R364_S380Fs

c.1092_1140delinsCCAFs

1 paper

NM_004327.4

p.S367_S381delFs

c.1099_1141del43

1 paper

NM_004327.4

p.R364L

c.1091G>T

1 paper

NM_004327.4

p.R364_Q375delFs

c.1092_1125del34

1 paper

NM_004327.4

p.S367_F378delFs

c.1099_1132del34

1 paper

NM_004327.4

p.S367_D379delFs

c.1099_1135del37

3 papers

NM_004327.4

p.R364W

c.1090C>T