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.S754*

c.2261C>A

Surrounding Variants

16 papers

NM_002016.2

p.E755K

c.2263G>A

1 paper

NM_002016.2

p.G752R

c.2254G>C

1 paper

NM_002016.2

p.G752R

c.2254G>A

1 paper

NM_002016.2

p.S750N

c.2249G>A

1 paper

NM_002016.2

p.T748S

c.2243C>G

1 paper

NM_002016.2

p.T748S

c.2242A>T

19 papers

NM_002016.2

p.S761fs

c.2281_2282fs

2 papers

NM_002016.2

p.S745_Q746delFs

c.2235_2238del4

18 papers

NM_002016.2

p.S761fs

c.2281_2282fs

42 papers

NM_002016.2

p.S761_V762delFs

c.2282_2285del4

1 paper

NM_002016.2

p.Q746K

c.2236C>A

1 paper

NM_002016.2

p.S745T

c.2234G>C