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

1 paper

NM_002017.5

p.Y332_D333del1

c.995_997delACG

Surrounding Variants

1 paper

NM_002017.5

p.Y332C

c.995A>G

1 paper

NM_002017.5

p.Y332del1

c.994_995delTAC

6 papers

NM_002017.5

p.N331fs

c.991_992fs

2 papers

NM_002017.5

p.N331_Y332delFs

c.992_995del4

1 paper

NM_002017.5

p.M330V

c.988A>G

1 paper

NM_002017.5

p.K334R

c.1001A>G

1 paper

NM_002017.5

p.N329D

c.985A>G

1 paper

NM_002017.5

p.L335Fs

c.1003delinsGAFs

1 paper

NM_002017.5

p.P328L

c.983C>T

1 paper

NM_002017.5

p.K327*

c.979A>T

10 papers

NM_002017.5

p.R337W

c.1009C>T

6 papers

NM_002017.5

p.R337Q

c.1010G>A