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

4 papers

NM_002016.2

p.S1129S

c.3387T>C

Surrounding Variants

2 papers

NM_002016.2

p.S1129delFs

c.3387delA

2 papers

NM_002016.2

p.S1127_S1129delFs

c.3381_3385del5

1 paper

NM_002016.2

p.A1130fs

c.3388_3389fs

1 paper

NM_002016.2

p.H1131Y

c.3391C>T

1 paper

NM_002016.2

p.E1128V

c.3383A>T

1 paper

NM_002016.2

p.E1128fs

c.3382_3383fs

2 papers

NM_002016.2

p.R1133W

c.3397C>T

1 paper

NM_002016.2

p.H1131_G1132delFs

c.3393_3396del4

1 paper

NM_002016.2

p.T1134A

c.3400A>G

1 paper

NM_002016.2

p.G1132_R1133del2

c.3394_3398del6

1 paper

NM_002016.2

p.R1135W

c.3403A>T

1 paper

NM_002016.2

p.T1134delFs

c.3402delG