Varaico: Literature-Extracted Genetic Variants

Gene:FLI1
Variant:p.K380N

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
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.K380N
c.1140G>T
Surrounding Variants
1 paper
NM_002017.5
p.K380N
c.1140G>C
2 papers
NM_002017.5
p.S376L
c.1127C>T
1 paper
NM_002017.5
p.H392del1
c.1174_1176delCAT
1 paper
NM_002017.5
p.Q367*
c.1099C>T
1 paper
NM_002017.5
p.A366V
c.1097C>T
1 paper
NM_002017.5
p.G364D
c.1091G>A
1 paper
NM_002017.5
p.G364A
c.1091G>C
1 paper
NM_002017.5
p.V398delFs
c.1192delG
1 paper
NM_002017.5
p.N399D
c.1195A>G
1 paper
NM_002017.5
p.D361Y
c.1081G>T
1 paper
NM_002017.5
p.P402fs
c.1204_1205fs
1 paper
NM_002017.5
p.P403L
c.1208C>T
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