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.I261_D262delins

c.783_784delinsAA

Surrounding Variants

1 paper

NM_004327.4

p.I261M

c.783C>G

1 paper

NM_004327.4

p.D262N

c.784G>A

1 paper

NM_004327.4

p.D262insFs

c.784_785ins8

1 paper

NM_004327.4

p.D262_N264delFs

c.785_792del8

1 paper

NM_004327.4

p.I261S

c.782T>G

1 paper

NM_004327.4

p.D262A

c.785A>C

1 paper

NM_004327.4

p.L260L

c.778C>T

1 paper

NM_004327.4

p.D258_S267del10

c.772_800del30

1 paper

NM_004327.4

p.G266S

c.796G>A

1 paper

NM_004327.4

p.G266D

c.797G>A

1 paper

NM_004327.4

p.G266V

c.797G>T

1 paper

NM_004327.4

p.S267_R268ins10

c.799_803ins30