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.Y1504H

c.4510T>C

Surrounding Variants

1 paper

NM_002016.2

p.S1503Y

c.4508C>A

1 paper

NM_002016.2

p.G1502E

c.4505G>A

1 paper

NM_002016.2

p.E1506K

c.4516G>A

1 paper

NM_002016.2

p.Q1507K

c.4519C>A

1 paper

NM_002016.2

p.Q1507delFs

c.4521delT

1 paper

NM_002016.2

p.G1513delFs

c.4538delC

2 papers

NM_002016.2

p.G1494W

c.4480G>T

1 paper

NM_002016.2

p.H1514N

c.4540C>A

1 paper

NM_002016.2

p.P1493delFs

c.4478delG

24 papers

NM_002016.2

p.S1515*

c.4544C>G

25 papers

NM_002016.2

p.S1515*

c.4544C>A

1 paper

NM_002016.2

p.Y1517insFs

c.4549_4550insC