Varaico: Literature-Extracted Genetic Variants

FLII

72 papers

RefSeq Summary

This gene encodes a protein with a gelsolin-like actin binding domain and an N-terminal leucine-rich repeat-protein protein interaction domain. The protein is similar to a Drosophila protein involved ...

Pfam Domains

LRR_8aa 33–91UCSCLeucine rich repeat

LRR_8aa 127–186UCSCLeucine rich repeat

LRR_4aa 269–311UCSCLeucine Rich repeats (2 copies)

Gelsolinaa 508–591UCSCGelsolin repeat

Gelsolinaa 628–703UCSCGelsolin repeat

Gelsolinaa 756–832UCSCGelsolin repeat

Gene Aliases

HGNC Name

FLII actin remodeling protein

HGNC Alias Symbols

FLIL; MGC39265

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002018.4

p.P634insFs

c.1900_1901insT

Surrounding Variants

1 paper

NM_002018.4

p.P634fs

c.1900_1901fs

1 paper

NM_002018.4

p.S607I

c.1820G>T

4 papers

NM_002018.4

p.L674V

c.2020C>G

1 paper

NM_002018.4

p.E677A

c.2030A>C

1 paper

NM_002018.4

p.K687E

c.2059A>G

1 paper

NM_002018.4

p.K730_V731Splc

c.2191-77G>C

1 paper

NM_002018.4

p.G736R

c.2206G>C

1 paper

NM_002018.4

p.Y737N

c.2209T>A

1 paper

NM_002018.4

p.N744D

c.2230A>G

1 paper

NM_002018.4

p.R754H

c.2261G>A

1 paper

NM_002018.4

p.V775M

c.2323G>A

1 paper

NM_002018.4

p.I777L

c.2329A>C