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.G348V

c.1043G>T

Surrounding Variants

1 paper

NM_004327.4

p.G348R

c.1042G>C

2 papers

NM_004327.4

p.G348C

c.1042G>T

1 paper

NM_004327.4

p.S347Y

c.1040C>A

2 papers

NM_004327.4

p.S346F

c.1037C>T

1 paper

NM_004327.4

p.S350F

c.1049C>T

1 paper

NM_004327.4

p.S351R

c.1051A>C

1 paper

NM_004327.4

p.S351R

c.1053C>A

1 paper

NM_004327.4

p.S351R

c.1053C>G

2 papers

NM_004327.4

p.D344N

c.1030G>A

2 papers

NM_004327.4

p.V353M

c.1057G>A

1 paper

NM_004327.4

p.D344_S351del8

c.1030_1052del24

1 paper

NM_004327.4

p.D344_S354del11

c.1030_1061del33