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.G129E

c.386G>A

Surrounding Variants

1 paper

NM_004327.4

p.G129A

c.386G>C

1 paper

NM_004327.4

p.G129V

c.386G>T

1 paper

NM_004327.4

p.P128P

c.384C>G

1 paper

NM_004327.4

p.A131T

c.391G>A

1 paper

NM_004327.4

p.R127K

c.380G>A

1 paper

NM_004327.4

p.R127insFs

c.379_380ins10

1 paper

NM_004327.4

p.R127W

c.379A>T

1 paper

NM_004327.4

p.R132C

c.394C>T

1 paper

NM_004327.4

p.R127delFs

c.379delA

1 paper

NM_004327.4

p.R132H

c.395G>A

4 papers

NM_004327.4

p.R132P

c.395G>C

1 paper

NM_004327.4

p.R132L

c.395G>T