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.S504F

c.1511C>T

Surrounding Variants

1 paper

NM_002016.2

p.H506Y

c.1516C>T

1 paper

NM_002016.2

p.D502G

c.1505A>G

2 papers

NM_002016.2

p.H506H

c.1518T>C

1 paper

NM_002016.2

p.S507_A508insA

c.1519_1523ins3

2 papers

NM_002016.2

p.R501Q

c.1502G>A

1 paper

NM_002016.2

p.S507*

c.1520C>G

1 paper

NM_002016.2

p.S507*

c.1520C>A

509 papers

NM_002016.2

p.R501*

c.1501C>T

1 paper

NM_002016.2

p.R501G

c.1501C>G

1 paper

NM_002016.2

p.A508T

c.1522G>A

1 paper

NM_002016.2

p.S509T

c.1525T>A

5 papers

NM_002016.2

p.E498D

c.1494G>T