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.Q746K

c.2236C>A

Surrounding Variants

1 paper

NM_002016.2

p.S745T

c.2234G>C

1 paper

NM_002016.2

p.S745fs

c.2233_2234fs

2 papers

NM_002016.2

p.S745_Q746delFs

c.2235_2238del4

1 paper

NM_002016.2

p.T748S

c.2242A>T

1 paper

NM_002016.2

p.T748S

c.2243C>G

1 paper

NM_002016.2

p.S743G

c.2227A>G

5 papers

NM_002016.2

p.S742Y

c.2225C>A

1 paper

NM_002016.2

p.S742P

c.2224T>C

1 paper

NM_002016.2

p.S750N

c.2249G>A

1 paper

NM_002016.2

p.R740delFs

c.2219delC

1 paper

NM_002016.2

p.G752R

c.2254G>C

1 paper

NM_002016.2

p.G752R

c.2254G>A