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

3 papers

NM_002016.2

p.Y1767*

c.5301C>G

Surrounding Variants

3 papers

NM_002016.2

p.Y1767*

c.5301C>A

7 papers

NM_002016.2

p.Q1768delFs

c.5303delT

1 paper

NM_002016.2

p.R1761L

c.5282G>T

1 paper

NM_002016.2

p.R1761H

c.5282G>A

1 paper

NM_002016.2

p.Q1774*

c.5320C>T

1 paper

NM_002016.2

p.R1761C

c.5281C>T

1 paper

NM_002016.2

p.S1777C

c.5330C>G

1 paper

NM_002016.2

p.A1778T

c.5332G>A

4 papers

NM_002016.2

p.E1757G

c.5270A>G

1 paper

NM_002016.2

p.E1757*

c.5269G>T

1 paper

NM_002016.2

p.H1779delFs

c.5335delG

2 papers

NM_002016.2

p.Q1754H

c.5262G>T