Varaico: Literature-Extracted Genetic Variants

FLI1

203 papers

RefSeq Summary

This gene encodes a transcription factor containing an ETS DNA-binding domain. The gene can undergo a t(11;22)(q24;q12) translocation with the Ewing sarcoma gene on chromosome 22, which results in a f...

Pfam Domains

SAM_PNTaa 114–198UCSCSterile alpha motif (SAM)/Pointed domain

Etsaa 280–361UCSCEts-domain

Gene Aliases

HGNC Name

Fli-1 proto-oncogene, ETS transcription factor

HGNC Alias Symbols

SIC-1; EWSR2; FLI-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002017.5

p.K47N

c.141G>C

Surrounding Variants

1 paper

NM_002017.5

p.K47N

c.141G>T

1 paper

NM_002017.5

p.I48F

c.142A>T

1 paper

NM_002017.5

p.N49Y

c.145A>T

1 paper

NM_002017.5

p.H46Y

c.136C>T

1 paper

NM_002017.5

p.P45insFs

c.133_134ins5

1 paper

NM_002017.5

p.L51fs

c.151_152fs

1 paper

NM_002017.5

p.L51P

c.152T>C

2 papers

NM_002017.5

p.G43E

c.128G>A

1 paper

NM_002017.5

p.G43A

c.128G>C

1 paper

NM_002017.5

p.P53S

c.157C>T

1 paper

NM_002017.5

p.D41N

c.121G>A

1 paper

NM_002017.5

p.D41H

c.121G>C