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.G908R

c.2722G>C

Surrounding Variants

1 paper

NM_004327.4

p.G908R

c.2722G>A

1 paper

NM_004327.4

p.P907L

c.2720C>T

9 papers

NM_004327.4

p.Y910C

c.2729A>G

1 paper

NM_004327.4

p.F912_N914del3

c.2734_2741del9

1 paper

NM_004327.4

p.D903Splc

c.2708-13A>G

1 paper

NM_004327.4

p.V917I

c.2749G>A

1 paper

NM_004327.4

p.A920T

c.2758G>A

1 paper

NM_004327.4

p.S927insFs

c.2779dupT

1 paper

NM_004327.4

p.N928Splc

c.2782+1G>A

1 paper

NM_004327.4

p.D903Splc

c.2707+2T>G

2 papers

NM_004327.4

p.N900N

c.2700T>C

1 paper

NM_004327.4

p.N900_K901delins

c.2700_2703delinsCAAA