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.R1376T

c.4127G>C

Surrounding Variants

10 papers

NM_002016.2

p.R1376G

c.4126A>G

1 paper

NM_002016.2

p.H1375Y

c.4123C>T

1 paper

NM_002016.2

p.H1370Y

c.4108C>T

1 paper

NM_002016.2

p.R1369T

c.4106G>C

1 paper

NM_002016.2

p.D1384D

c.4152C>T

2 papers

NM_002016.2

p.D1384E

c.4152C>G

1 paper

NM_002016.2

p.D1384fs

c.4150_4151fs

1 paper

NM_002016.2

p.D1384E

c.4152C>A

1 paper

NM_002016.2

p.D1384delFs

c.4150_4151delTC

1 paper

NM_002016.2

p.H1387Y

c.4159C>T

2 papers

NM_002016.2

p.R1388Q

c.4163G>A

2 papers

NM_002016.2

p.S1390Y

c.4169C>A