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

14 papers

NM_002016.2

p.H2507Q

c.7521C>A

Surrounding Variants

14 papers

NM_002016.2

p.H2507Q

c.7521C>G

3 papers

NM_002016.2

p.H2505R

c.7514A>G

1 paper

NM_002016.2

p.A2503V

c.7508C>T

1 paper

NM_002016.2

p.Q2516E

c.7546C>G

1 paper

NM_002016.2

p.Q2516K

c.7546C>A

1 paper

NM_002016.2

p.R2518G

c.7552C>G

1 paper

NM_002016.2

p.S2497P

c.7489T>C

5 papers

NM_002016.2

p.T2496fs

c.7486_7487fs

15 papers

NM_002016.2

p.T2496delFs

c.7487delG

1 paper

NM_002016.2

p.N2519D

c.7555A>G

1 paper

NM_002016.2

p.N2519T

c.7556A>C

4 papers

NM_002016.2

p.T2496fs

c.7486_7487fs