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.A694V

c.2081C>T

Surrounding Variants

1 paper

NM_002016.2

p.S690G

c.2068A>G

1 paper

NM_002016.2

p.R701*

c.2101A>T

1 paper

NM_002016.2

p.N687S

c.2060A>G

1 paper

NM_002016.2

p.A704P

c.2110G>C

2 papers

NM_002016.2

p.R683H

c.2048G>A

1 paper

NM_002016.2

p.T682delFs

c.2045delG

1 paper

NM_002016.2

p.G705_E706delFs

c.2114_2117del4

1 paper

NM_002016.2

p.G681R

c.2041G>C

1 paper

NM_002016.2

p.K679I

c.2036A>T

3 papers

NM_002016.2

p.K679Q

c.2035A>C

1 paper

NM_002016.2

p.R678I

c.2033G>T

1 paper

NM_002016.2

p.R711C

c.2131C>T