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.L35L

c.105G>C

Surrounding Variants

1 paper

NM_004327.4

p.E36*

c.106G>T

1 paper

NM_004327.4

p.L35R

c.104T>G

1 paper

NM_004327.4

p.E34D

c.102G>T

1 paper

NM_004327.4

p.R37_C38del2

c.109_113del6

1 paper

NM_004327.4

p.R37insFs

c.110dupG

1 paper

NM_004327.4

p.R37_C38del1

c.110_112delGCT

1 paper

NM_004327.4

p.E34K

c.100G>A

1 paper

NM_004327.4

p.R37H

c.110G>A

1 paper

NM_004327.4

p.E34ins9

c.101_102ins27

1 paper

NM_004327.4

p.R37insFs

c.110_111insC

1 paper

NM_004327.4

p.E34insFs

c.100_101insT

1 paper

NM_004327.4

p.C38delFs

c.112delT