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.H984R

c.2951A>G

Surrounding Variants

3 papers

NM_002016.2

p.H984delFs

c.2952delG

1 paper

NM_002016.2

p.S982P

c.2944T>C

4 papers

NM_002016.2

p.H980D

c.2938C>G

1 paper

NM_002016.2

p.R979T

c.2936G>C

1 paper

NM_002016.2

p.E990K

c.2968G>A

1 paper

NM_002016.2

p.S978P

c.2932T>C

8 papers

NM_002016.2

p.Q977*

c.2929C>T

2 papers

NM_002016.2

p.R992fs

c.2974_2975fs

4 papers

NM_002016.2

p.R992_A993delFs

c.2976_2977delCT

1 paper

NM_002016.2

p.Q975L

c.2924A>T

1 paper

NM_002016.2

p.A974A

c.2922T>C

1 paper

NM_002016.2

p.G994S

c.2980G>A