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.E362insFs

c.1085dupA

Surrounding Variants

1 paper

NM_002016.2

p.A361T

c.1081G>A

1 paper

NM_002016.2

p.T358_R359delFs

c.1074_1075delGA

1 paper

NM_002016.2

p.T358I

c.1073C>T

1 paper

NM_002016.2

p.G367A

c.1100G>C

5 papers

NM_002016.2

p.Q368*

c.1102C>T

1 paper

NM_002016.2

p.Q368delFs

c.1103delT

1 paper

NM_002016.2

p.T369A

c.1105A>G

1 paper

NM_002016.2

p.H346_R354del9

c.1036_1061del27

6 papers

NM_002016.2

p.Q355*

c.1063C>T

2 papers

NM_002016.2

p.S371L

c.1112C>T

1 paper

NM_002016.2

p.S372C

c.1115C>G

1 paper

NM_002016.2

p.Q375*

c.1123C>T