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.G647E

c.1940G>A

Surrounding Variants

1 paper

NM_002016.2

p.H646R

c.1937A>G

2 papers

NM_002016.2

p.Q650E

c.1948C>G

3 papers

NM_002016.2

p.Q650R

c.1949A>G

1 paper

NM_002016.2

p.E651*

c.1951G>T

1 paper

NM_002016.2

p.E651Q

c.1951G>C

1 paper

NM_002016.2

p.G647_Q650del4

c.1939_1949del12

1 paper

NM_002016.2

p.W637R

c.1909T>C

1 paper

NM_002016.2

p.W637R

c.1909T>A

1 paper

NM_002016.2

p.R636M

c.1907G>T

1 paper

NM_002016.2

p.H659Q

c.1977C>G

1 paper

NM_002016.2

p.H659Q

c.1977C>A

1 paper

NM_002016.2

p.H630_S631delFs

c.1888_1891del4