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

68 papers

NM_002016.2

p.G1234delFs

c.3702delC

Surrounding Variants

1 paper

NM_002016.2

p.S1235fs

c.3703_3704fs

2 papers

NM_002016.2

p.S1235fs

c.3703_3704fs

1 paper

NM_002016.2

p.R1236C

c.3706C>T

1 paper

NM_002016.2

p.R1236H

c.3707G>A

1 paper

NM_002016.2

p.H1238R

c.3713A>G

1 paper

NM_002016.2

p.E1239A

c.3716A>C

3 papers

NM_002016.2

p.K1224_Q1225delFs

c.3672_3675del4

11 papers

NM_002016.2

p.Q1225delFs

c.3673delG

1 paper

NM_002016.2

p.Q1225E

c.3673C>G

1 paper

NM_002016.2

p.K1224fs

c.3670_3671fs

1 paper

NM_002016.2

p.D1245insFs

c.3734dupA

1 paper

NM_002016.2

p.K1224fs

c.3670_3671fs