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.T61P

c.181A>C

Surrounding Variants

1 paper

NM_004327.4

p.T61A

c.181A>G

1 paper

NM_004327.4

p.T61_E66insFs

c.183_196dup14

1 paper

NM_004327.4

p.T61T

c.183G>A

1 paper

NM_004327.4

p.L62insFs

c.185_186ins10

1 paper

NM_004327.4

p.Q60_T61ins9

c.178_182ins27

2 papers

NM_004327.4

p.Q60E

c.178C>G

1 paper

NM_004327.4

p.L62*

c.185T>A

1 paper

NM_004327.4

p.L63insFs

c.188_189ins4

1 paper

NM_004327.4

p.L63M

c.187C>A

1 paper

NM_004327.4

p.L59L

c.175C>T

1 paper

NM_004327.4

p.L63fs

c.187_188fs

1 paper

NM_004327.4

p.Y58*

c.174C>A