Varaico: Literature-Extracted Genetic Variants

FLG

1,270 papers

RefSeq Summary

The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein prec...

Pfam Domains

S_100aa 4–48UCSCS-100/ICaBP type calcium binding domain

Filaggrinaa 257–306UCSCFilaggrin

Filaggrinaa 373–428UCSCFilaggrin

Filaggrinaa 574–630UCSCFilaggrin

Filaggrinaa 697–753UCSCFilaggrin

Filaggrinaa 899–955UCSCFilaggrin

Gene Aliases

HGNC Name

filaggrin

HGNC Alias Symbols

FLG1; FLG-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002016.2

p.E1335delFs

c.4004_4005delCT

Surrounding Variants

2 papers

NM_002016.2

p.E1335fs

c.4003_4004fs

1 paper

NM_002016.2

p.T1334delFs

c.4001_4002delTG

1 paper

NM_002016.2

p.T1331N

c.3992C>A

1 paper

NM_002016.2

p.G1340fs

c.4018_4019fs

2 papers

NM_002016.2

p.G1340delFs

c.4020delT

4 papers

NM_002016.2

p.A1342delFs

c.4026delA

1 paper

NM_002016.2

p.Q1328*

c.3982C>T

1 paper

NM_002016.2

p.D1324delFs

c.3972delG

1 paper

NM_002016.2

p.G1320R

c.3958G>C

1 paper

NM_002016.2

p.G1320R

c.3958G>A

1 paper

NM_002016.2

p.H1319H

c.3957C>T

1 paper

NM_002016.2

p.H1319Y

c.3955C>T