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.R340P

c.1019G>C

Surrounding Variants

1 paper

NM_002017.5

p.R340H

c.1019G>A

1 paper

NM_002017.5

p.R340C

c.1018C>T

1 paper

NM_002017.5

p.L339H

c.1016T>A

11 papers

NM_002017.5

p.Y343C

c.1028A>G

6 papers

NM_002017.5

p.R337Q

c.1010G>A

10 papers

NM_002017.5

p.R337W

c.1009C>T

1 paper

NM_002017.5

p.D344N

c.1030G>A

3 papers

NM_002017.5

p.K345E

c.1033A>G

1 paper

NM_002017.5

p.K345R

c.1034A>G

1 paper

NM_002017.5

p.L335Fs

c.1003delinsGAFs

1 paper

NM_002017.5

p.K334R

c.1001A>G

1 paper

NM_002017.5

p.N346K

c.1038C>A