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.L882V

c.2644C>G

Surrounding Variants

1 paper

NM_002018.4

p.K874N

c.2622G>C

1 paper

NM_002018.4

p.K864R

c.2591A>G

1 paper

NM_002018.4

p.N849S

c.2546A>G

1 paper

NM_002018.4

p.D840E

c.2520T>A

1 paper

NM_002018.4

p.V830V

c.2490G>C

1 paper

NM_002018.4

p.W900*

c.2699G>A

1 paper

NM_002018.4

p.W900*

c.2700G>A

1 paper

NM_002018.4

p.E913K

c.2737G>A

1 paper

NM_002018.4

p.A918V

c.2753C>T

1 paper

NM_002018.4

p.P921L

c.2762C>T

1 paper

NM_002018.4

p.E924K

c.2770G>A

2 papers

NM_002018.4

p.V935I

c.2803G>A