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

2 papers

NM_002016.2

p.H2592P

c.7775A>C

Surrounding Variants

1 paper

NM_002016.2

p.H2592N

c.7774C>A

1 paper

NM_002016.2

p.G2593*

c.7777G>T

1 paper

NM_002016.2

p.S2588S

c.7764C>A

2 papers

NM_002016.2

p.D2601N

c.7801G>A

2 papers

NM_002016.2

p.W2583*

c.7749G>A

2 papers

NM_002016.2

p.W2583*

c.7748G>A

1 paper

NM_002016.2

p.S2580_E2581delFs

c.7740_7741delCA

1 paper

NM_002016.2

p.S2580fs

c.7738_7739fs

1 paper

NM_002016.2

p.D2579D

c.7737C>T

1 paper

NM_002016.2

p.G2575A

c.7724G>C

4 papers

NM_002016.2

p.Q2574E

c.7720C>G

3 papers

NM_002016.2

p.D2612G

c.7835A>G