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

4 papers

NM_002017.5

p.R68W

c.202C>T

Surrounding Variants

2 papers

NM_002017.5

p.R68L

c.203G>T

1 paper

NM_002017.5

p.V66G

c.197T>G

1 paper

NM_002017.5

p.V66I

c.196G>A

1 paper

NM_002017.5

p.D71_H72insFs

c.213_214insT

1 paper

NM_002017.5

p.V62M

c.184G>A

1 paper

NM_002017.5

p.P61L

c.182C>T

1 paper

NM_002017.5

p.S76S

c.228C>T

1 paper

NM_002017.5

p.I58fs

c.172_173fs

1 paper

NM_002017.5

p.I58_Q60delFs

c.172_178del7

1 paper

NM_002017.5

p.P53S

c.157C>T

1 paper

NM_002017.5

p.L51P

c.152T>C

1 paper

NM_002017.5

p.L51fs

c.151_152fs