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.N348K

c.1044C>A

Surrounding Variants

1 paper

NM_002018.4

p.N348K

c.1044C>G

1 paper

NM_002018.4

p.L342L

c.1024C>T

1 paper

NM_002018.4

p.E364V

c.1091A>T

1 paper

NM_002018.4

p.A386A

c.1158C>T

1 paper

NM_002018.4

p.E334G

c.1001A>G

2 papers

NM_002018.4

p.Q454*

c.1360C>T

1 paper

NM_002018.4

p.D305D

c.915C>T

1 paper

NM_002018.4

p.D305Y

c.913G>T

1 paper

NM_002018.4

p.K295del1

c.883_884delCTT

1 paper

NM_002018.4

p.I288V

c.862A>G

1 paper

NM_002018.4

p.N275S

c.824A>G

1 paper

NM_002018.4

p.A464T

c.1390G>A