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

5 papers

NM_002016.2

p.S2344*

c.7031C>G

Surrounding Variants

5 papers

NM_002016.2

p.S2344*

c.7031C>A

1 paper

NM_002016.2

p.G2347E

c.7040G>A

1 paper

NM_002016.2

p.H2348H

c.7044C>T

13 papers

NM_002016.2

p.D2339N

c.7015G>A

1 paper

NM_002016.2

p.Q2336*

c.7006C>T

1 paper

NM_002016.2

p.H2333R

c.6998A>G

4 papers

NM_002016.2

p.H2330H

c.6990C>T

1 paper

NM_002016.2

p.S2358G

c.7072A>G

1 paper

NM_002016.2

p.R2329del1

c.6985_6986delTCT

1 paper

NM_002016.2

p.E2328E

c.6984G>A

3 papers

NM_002016.2

p.R2361*

c.7081C>T

1 paper

NM_002016.2

p.R2361Q

c.7082G>A