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.P383_T385Fs

c.1147_1154delinsTGTCFs

Surrounding Variants

1 paper

NM_004327.4

p.P383insFs

c.1148_1149ins8

3 papers

NM_004327.4

p.P383L

c.1148C>T

1 paper

NM_004327.4

p.P383_T385Fs

c.1148_1154delinsGACFs

1 paper

NM_004327.4

p.P384delFs

c.1152delC

1 paper

NM_004327.4

p.P383_P384delFs

c.1147_1151del5

1 paper

NM_004327.4

p.P384_T385delFs

c.1151_1154del4

1 paper

NM_004327.4

p.P383_T385Fs

c.1149_1154delinsTCCTCCTTGTCFs

1 paper

NM_004327.4

p.S382N

c.1145G>A

1 paper

NM_004327.4

p.S382insFs

c.1145_1146ins5

1 paper

NM_004327.4

p.S382insFs

c.1144_1145ins20

1 paper

NM_004327.4

p.S382_P383insFs

c.1145_1149dup5

1 paper

NM_004327.4

p.P384T

c.1150C>A