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.R308H

c.923G>A

Surrounding Variants

2 papers

NM_004327.4

p.R308C

c.922C>T

1 paper

NM_004327.4

p.L309I

c.925C>A

1 paper

NM_004327.4

p.K307K

c.921G>A

1 paper

NM_004327.4

p.K307*

c.919A>T

2 papers

NM_004327.4

p.Q305Q

c.915G>A

2 papers

NM_004327.4

p.W311R

c.931T>A

2 papers

NM_004327.4

p.W311R

c.931T>C

1 paper

NM_004327.4

p.W311C

c.933G>T

1 paper

NM_004327.4

p.R313_S317del5

c.937_950del15

2 papers

NM_004327.4

p.E304V

c.911A>T

2 papers

NM_004327.4

p.P312P

c.936C>T

3 papers

NM_004327.4

p.E304K

c.910G>A