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.E250Q

c.748G>C

Surrounding Variants

1 paper

NM_004327.4

p.E250K

c.748G>A

1 paper

NM_004327.4

p.E250G

c.749A>G

1 paper

NM_004327.4

p.D248G

c.743A>G

1 paper

NM_004327.4

p.D248N

c.742G>A

1 paper

NM_004327.4

p.D248H

c.742G>C

2 papers

NM_004327.4

p.N252S

c.755A>G

1 paper

NM_004327.4

p.D248insFs

c.742_743insGG

1 paper

NM_004327.4

p.E247G

c.740A>G

1 paper

NM_004327.4

p.P253S

c.757C>T

2 papers

NM_004327.4

p.P253L

c.758C>T

1 paper

NM_004327.4

p.Y246F

c.737A>T

2 papers

NM_004327.4

p.Y246insFs

c.736dupT