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.D379_P383delFs

c.1135_1147del13

Surrounding Variants

1 paper

NM_004327.4

p.F378L

c.1132T>C

1 paper

NM_004327.4

p.F378_T385delFs

c.1132_1153del22

1 paper

NM_004327.4

p.F378C

c.1133T>G

1 paper

NM_004327.4

p.D379del1

c.1135_1136delGAC

1 paper

NM_004327.4

p.F378_T385Fs

c.1132_1154delinsTGTCFs

1 paper

NM_004327.4

p.F378L

c.1134C>A

1 paper

NM_004327.4

p.S377F

c.1130C>T

1 paper

NM_004327.4

p.S377_T385Fs

c.1130_1154delinsTCCATCCTTGTCFs

1 paper

NM_004327.4

p.D379delFs

c.1135delG

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