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.L1056_Y1057delFs

c.3168_3169delAG

Surrounding Variants

1 paper

NM_002018.4

p.R1069Q

c.3206G>A

1 paper

NM_002018.4

p.I1073M

c.3219C>G

1 paper

NM_002018.4

p.E1017_V1018Splc

c.3051+54T>C

1 paper

NM_002018.4

p.K1007K

c.3021G>A

1 paper

NM_002018.4

p.S1094R

c.3280A>C

1 paper

NM_002018.4

p.S1094R

c.3282T>G

1 paper

NM_002018.4

p.S1094R

c.3282T>A

1 paper

NM_002018.4

p.T999T

c.2997C>T

1 paper

NM_002018.4

p.Y1102*

c.3306T>G

1 paper

NM_002018.4

p.N994S

c.2981A>G

1 paper

NM_002018.4

p.R990L

c.2969G>T

1 paper

NM_002018.4

p.R1107W

c.3319C>T