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.S873_L874del1

c.2618_2620delCCC

Surrounding Variants

1 paper

NM_004327.4

p.F869_S876delFs

c.2606_2628del23

1 paper

NM_004327.4

p.C868Splc

c.2603-4C>A

1 paper

NM_004327.4

p.L879P

c.2636T>C

1 paper

NM_004327.4

p.L882L

c.2644C>T

1 paper

NM_004327.4

p.L882P

c.2645T>C

2 papers

NM_004327.4

p.T883I

c.2648C>T

1 paper

NM_004327.4

p.C886*

c.2658T>A

1 paper

NM_004327.4

p.K888I

c.2663A>T

1 paper

NM_004327.4

p.Q890*

c.2668C>T

1 paper

NM_004327.4

p.Q890R

c.2669A>G

1 paper

NM_004327.4

p.T891_L897delFs

c.2671_2690del20

1 paper

NM_004327.4

p.Q890_D903delins

c.2670_2707delinsAACAGCTCTGCCTCTGGGAGCGGAGAGGACTGGGATAGAAA