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.V1204V

c.3612C>T

Surrounding Variants

1 paper

NM_002018.4

p.D1193G

c.3578A>G

4 papers

NM_002018.4

p.R1240C

c.3718C>T

1 paper

NM_002018.4

p.R1241Q

c.3722G>A

2 papers

NM_002018.4

p.R1243H

c.3728G>A

3 papers

NM_002018.4

p.R1168W

c.3502C>T

1 paper

NM_002018.4

p.R1168W

c.3502C>T

1 paper

NM_002018.4

p.D1157G

c.3470A>G

1 paper

NM_002018.4

p.D1156D

c.3468C>T

1 paper

NM_002018.4

p.K1152E

c.3454A>G

1 paper

NM_002018.4

p.F1143Y

c.3428T>A

1 paper

NM_002018.4

p.E1136K

c.3406G>A

1 paper

NM_002018.4

p.I1134_N1135insFs

c.3401_3404dup4