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.G1826*

c.5476G>T

Surrounding Variants

1 paper

NM_002016.2

p.S1832L

c.5495C>T

3 papers

NM_002016.2

p.S1819P

c.5455T>C

1 paper

NM_002016.2

p.V1833E

c.5498T>A

1 paper

NM_002016.2

p.P1817P

c.5451A>G

1 paper

NM_002016.2

p.T1812_I1813insFs

c.5436_5437ins10

1 paper

NM_002016.2

p.D1811Y

c.5431G>T

1 paper

NM_002016.2

p.H1843P

c.5528A>C

1 paper

NM_002016.2

p.E1808Q

c.5422G>C

10 papers

NM_002016.2

p.A1805V

c.5414C>T

1 paper

NM_002016.2

p.A1805T

c.5413G>A

1 paper

NM_002016.2

p.S1800R

c.5400C>G

1 paper

NM_002016.2

p.S1800R

c.5400C>A