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.A81T

c.241G>A

Surrounding Variants

1 paper

NM_004327.4

p.A81G

c.242C>G

1 paper

NM_004327.4

p.A80_A81insFs

c.240_241ins32

2 papers

NM_004327.4

p.Q82*

c.244C>T

1 paper

NM_004327.4

p.A80_Q82ins1

c.239_244dup6

1 paper

NM_004327.4

p.Q82R

c.245A>G

1 paper

NM_004327.4

p.R79H

c.236G>A

1 paper

NM_004327.4

p.A83P

c.247G>C

2 papers

NM_004327.4

p.R78R

c.234G>T

2 papers

NM_004327.4

p.P84S

c.250C>T

1 paper

NM_004327.4

p.D85G

c.254A>G

1 paper

NM_004327.4

p.G76G

c.228C>T

1 paper

NM_004327.4

p.G86delFs

c.256delG