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.S1001R

c.3003C>G

Surrounding Variants

1 paper

NM_002016.2

p.S1001R

c.3003C>A

1 paper

NM_002016.2

p.S1001R

c.3001A>C

1 paper

NM_002016.2

p.S1002delFs

c.3006delG

1 paper

NM_002016.2

p.Q1004*

c.3010C>T

1 paper

NM_002016.2

p.R1003_Q1004delFs

c.3008_3011del4

1 paper

NM_002016.2

p.S1005*

c.3014C>G

1 paper

NM_002016.2

p.S1005*

c.3014C>A

1 paper

NM_002016.2

p.G996delFs

c.2988delC

1 paper

NM_002016.2

p.G1006G

c.3018A>C

7 papers

NM_002016.2

p.G996R

c.2986G>C

7 papers

NM_002016.2

p.G996R

c.2986G>A

3 papers

NM_002016.2

p.H995H

c.2985C>T