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.N900D

c.2698A>G

Surrounding Variants

2 papers

NM_004327.4

p.N900N

c.2700T>C

1 paper

NM_004327.4

p.N900_K901delins

c.2700_2703delinsCAAA

1 paper

NM_004327.4

p.I899Fs

c.2695_2697delinsAFs

1 paper

NM_004327.4

p.L897L

c.2691G>T

1 paper

NM_004327.4

p.T898_N900del3

c.2692_2699del9

1 paper

NM_004327.4

p.L897M

c.2689C>A

1 paper

NM_004327.4

p.L897L

c.2689C>T

1 paper

NM_004327.4

p.P896Q

c.2687C>A

1 paper

NM_004327.4

p.P896L

c.2687C>T

1 paper

NM_004327.4

p.D903Splc

c.2707+2T>G

1 paper

NM_004327.4

p.S894N

c.2681G>A

1 paper

NM_004327.4

p.H893Q

c.2679C>A