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

2 papers

NM_004327.4

p.P253L

c.758C>T

Surrounding Variants

1 paper

NM_004327.4

p.P253S

c.757C>T

2 papers

NM_004327.4

p.N252S

c.755A>G

1 paper

NM_004327.4

p.R254R

c.762C>T

1 paper

NM_004327.4

p.F255_D258delFs

c.763_773del11

1 paper

NM_004327.4

p.L256del1

c.766_767delCTG

1 paper

NM_004327.4

p.L256insFs

c.766_767ins10

1 paper

NM_004327.4

p.E250G

c.749A>G

1 paper

NM_004327.4

p.L256Q

c.767T>A

1 paper

NM_004327.4

p.L256P

c.767T>C

1 paper

NM_004327.4

p.E250K

c.748G>A

1 paper

NM_004327.4

p.E250Q

c.748G>C

1 paper

NM_004327.4

p.D258_S267del10

c.772_800del30