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

1–12 of 223 variants

11 papers

NM_002017.5

p.Y343C

c.1028A>G

10 papers

NM_002017.5

p.R337W

c.1009C>T

9 papers

NM_002017.5

p.R324W

c.970C>T

6 papers

NM_002017.5

p.N331fs

c.991_992fs

6 papers

NM_002017.5

p.R337Q

c.1010G>A

4 papers

NM_002017.5

p.R68W

c.202C>T

3 papers

NM_002017.5

p.P99delFs

c.297delC

3 papers

NM_002017.5

p.K345E

c.1033A>G

2 papers

NM_002017.5

p.M1T

c.2T>C

2 papers

NM_002017.5

p.G24E

c.71G>A

2 papers

NM_002017.5

p.G43E

c.128G>A

2 papers

NM_002017.5

p.K47N

c.141G>C