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.P148T

c.442C>A

Surrounding Variants

1 paper

NM_004327.4

p.P147P

c.441C>T

1 paper

NM_004327.4

p.P148_L154del7

c.442_461del21

1 paper

NM_004327.4

p.P147S

c.439C>T

1 paper

NM_004327.4

p.A149T

c.445G>A

1 paper

NM_004327.4

p.A149P

c.445G>C

1 paper

NM_004327.4

p.A149fs

c.445_446fs

1 paper

NM_004327.4

p.P148ins0

c.442_444dupCCC

1 paper

NM_004327.4

p.S150R

c.448A>C

1 paper

NM_004327.4

p.S150_A153delFs

c.449_459del11

1 paper

NM_004327.4

p.G146R

c.436G>A

1 paper

NM_004327.4

p.S150insFs

c.449_450insT

1 paper

NM_004327.4

p.R145R

c.435G>T