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.S3636T

c.10907G>C

Surrounding Variants

1 paper

NM_002016.2

p.S3636fs

c.10906_10907fs

1 paper

NM_002016.2

p.S3636delFs

c.10907_10908delGC

9 papers

NM_002016.2

p.D3635N

c.10903G>A

6 papers

NM_002016.2

p.R3638*

c.10912A>T

1 paper

NM_002016.2

p.R3638R

c.10912A>C

1 paper

NM_002016.2

p.A3634V

c.10901C>T

2 papers

NM_002016.2

p.S3640A

c.10918T>G

3 papers

NM_002016.2

p.S3640*

c.10919C>G

3 papers

NM_002016.2

p.S3640*

c.10919C>A

1 paper

NM_002016.2

p.Q3632L

c.10895A>T

1 paper

NM_002016.2

p.H3630Y

c.10888C>T

1 paper

NM_002016.2

p.R3625del1

c.10873_10874delTCT