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.E1084_E1085delins

c.3252_3253delinsCT

Surrounding Variants

2 papers

NM_004327.4

p.M1083L

c.3247A>T

1 paper

NM_004327.4

p.G1082A

c.3245G>C

2 papers

NM_004327.4

p.R1081R

c.3243A>G

1 paper

NM_004327.4

p.I1088_Y1089ins5

c.3262_3266ins15

1 paper

NM_004327.4

p.R1081*

c.3241C>T

1 paper

NM_004327.4

p.Y1089C

c.3266A>G

4 papers

NM_004327.4

p.R1080C

c.3238C>T

29 papers

NM_004327.4

p.S1092_G1093insFs

c.3275_3278dup4

11 papers

NM_004327.4

p.S1092fs

c.3274_3275fs

1 paper

NM_004327.4

p.G1093insFs

c.3277_3278ins4

1 paper

NM_004327.4

p.S1092S

c.3276C>T

13 papers

NM_004327.4

p.V1094fs

c.3280_3281fs