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.D17G

c.50A>G

Surrounding Variants

1 paper

NM_004327.4

p.P16P

c.48G>T

1 paper

NM_004327.4

p.D17delFs

c.49_50delGA

1 paper

NM_004327.4

p.S18T

c.52T>A

1 paper

NM_004327.4

p.P16R

c.47C>G

1 paper

NM_004327.4

p.E19K

c.55G>A

1 paper

NM_004327.4

p.E19_P20delFs

c.56_60del5

1 paper

NM_004327.4

p.E19_P21del0

c.56_61del6

1 paper

NM_004327.4

p.D17_P21del5

c.49_62del15

1 paper

NM_004327.4

p.E19E

c.57G>A

1 paper

NM_004327.4

p.P20S

c.58C>T

1 paper

NM_004327.4

p.P20P

c.60C>A

1 paper

NM_004327.4

p.P20_P21ins3

c.60_61ins9