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.Q2417E

c.7249C>G

Surrounding Variants

40 papers

NM_002016.2

p.Q2417*

c.7249C>T

2 papers

NM_002016.2

p.V2418M

c.7252G>A

1 paper

NM_002016.2

p.G2412G

c.7236G>A

54 papers

NM_002016.2

p.E2422*

c.7264G>T

1 paper

NM_002016.2

p.S2411P

c.7231T>C

1 paper

NM_002016.2

p.Q2423fs

c.7267_7268fs

1 paper

NM_002016.2

p.R2410H

c.7229G>A

3 papers

NM_002016.2

p.Q2423delFs

c.7267_7268delTG

2 papers

NM_002016.2

p.R2410C

c.7228C>T

1 paper

NM_002016.2

p.S2424C

c.7271C>G

1 paper

NM_002016.2

p.R2407T

c.7220G>C

1 paper

NM_002016.2

p.A2427T

c.7279G>A