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

1–12 of 87 variants

4 papers

NM_002018.4

p.L674V

c.2020C>G

4 papers

NM_002018.4

p.R1240C

c.3718C>T

3 papers

NM_002018.4

p.R1168W

c.3502C>T

2 papers

NM_002018.4

p.Q454*

c.1360C>T

2 papers

NM_002018.4

p.V935I

c.2803G>A

2 papers

NM_002018.4

p.R1243H

c.3728G>A

1 paper

NM_002018.4

p.V6M

c.16G>A

1 paper

NM_002018.4

p.K21_G22Splc

c.63+10G>C

1 paper

NM_002018.4

p.L40L

c.118C>T

1 paper

NM_002018.4

p.R82R

c.246C>T

1 paper

NM_002018.4

p.D110fs

c.328_329fs

1 paper

NM_002018.4

p.Y155F

c.464A>T