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.Q404delFs

c.1212delT

Surrounding Variants

10 papers

NM_002016.2

p.S406*

c.1217C>G

10 papers

NM_002016.2

p.S406*

c.1217C>A

3 papers

NM_002016.2

p.G403R

c.1207G>C

2 papers

NM_002016.2

p.G403R

c.1207G>A

1 paper

NM_002016.2

p.R402H

c.1205G>A

1 paper

NM_002016.2

p.G401E

c.1202G>A

1 paper

NM_002016.2

p.A399T

c.1195G>A

1 paper

NM_002016.2

p.S406_S410delFs

c.1218_1230del13

3 papers

NM_002016.2

p.R412R

c.1236T>C

1 paper

NM_002016.2

p.R396I

c.1187G>T

1 paper

NM_002016.2

p.R415L

c.1244G>T

1 paper

NM_002016.2

p.R415Q

c.1244G>A