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.S742Y

c.2225C>A

Surrounding Variants

1 paper

NM_002016.2

p.S742P

c.2224T>C

1 paper

NM_002016.2

p.S743G

c.2227A>G

1 paper

NM_002016.2

p.R740delFs

c.2219delC

5 papers

NM_002016.2

p.R740*

c.2218C>T

1 paper

NM_002016.2

p.R740fs

c.2218_2219fs

1 paper

NM_002016.2

p.S745fs

c.2233_2234fs

1 paper

NM_002016.2

p.H739Q

c.2217C>A

1 paper

NM_002016.2

p.S745T

c.2234G>C

1 paper

NM_002016.2

p.Q746K

c.2236C>A

2 papers

NM_002016.2

p.G738R

c.2212G>C

2 papers

NM_002016.2

p.G738R

c.2212G>A

2 papers

NM_002016.2

p.S745_Q746delFs

c.2235_2238del4