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.R74R

c.222A>T

Surrounding Variants

1 paper

NM_004327.4

p.R74Q

c.221G>A

1 paper

NM_004327.4

p.W75_G76delFs

c.224_227del4

1 paper

NM_004327.4

p.R74*

c.220C>T

1 paper

NM_004327.4

p.Q73Q

c.219G>A

1 paper

NM_004327.4

p.G76S

c.226G>A

1 paper

NM_004327.4

p.G76D

c.227G>A

1 paper

NM_004327.4

p.G76G

c.228C>T

2 papers

NM_004327.4

p.R72Q

c.215G>A

3 papers

NM_004327.4

p.R72P

c.215G>C

1 paper

NM_004327.4

p.R72L

c.215G>T

1 paper

NM_004327.4

p.D71N

c.211G>A

2 papers

NM_004327.4

p.R78R

c.234G>T