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

2 papers

NM_004327.4

p.Q1048_T1049insFs

c.3143_3146dup4

Surrounding Variants

4 papers

NM_004327.4

p.K1047R

c.3140A>G

13 papers

NM_004327.4

p.Q1048insFs

c.3142_3143ins4

2 papers

NM_004327.4

p.Q1048Fs

c.3142delinsTCCGGFs

1 paper

NM_004327.4

p.M1043L

c.3127A>C

1 paper

NM_004327.4

p.M1043V

c.3127A>G

1 paper

NM_004327.4

p.M1043L

c.3127A>T

1 paper

NM_004327.4

p.L1040_K1041ins3

c.3120_3121ins9

1 paper

NM_004327.4

p.F1038insFs

c.3113_3114insT

1 paper

NM_004327.4

p.F1038_L1040del0

c.3112_3120del9

2 papers

NM_004327.4

p.E1037K

c.3109G>A

1 paper

NM_004327.4

p.V1058L

c.3172G>T

2 papers

NM_004327.4

p.T1060S

c.3179C>G