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.E32_Q33ins3

c.96_97ins9

Surrounding Variants

1 paper

NM_004327.4

p.Q33K

c.97C>A

1 paper

NM_004327.4

p.Q33Fs

c.97_98delinsCFs

1 paper

NM_004327.4

p.Q33P

c.98A>C

2 papers

NM_004327.4

p.E32K

c.94G>A

1 paper

NM_004327.4

p.E32_Q33ins13

c.94_98ins39

1 paper

NM_004327.4

p.Q33Q

c.99G>A

1 paper

NM_004327.4

p.E34K

c.100G>A

1 paper

NM_004327.4

p.E34ins9

c.101_102ins27

1 paper

NM_004327.4

p.E34insFs

c.100_101insT

1 paper

NM_004327.4

p.I31F

c.91A>T

2 papers

NM_004327.4

p.D30D

c.90C>T

1 paper

NM_004327.4

p.E34D

c.102G>T