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.T1164delFs

c.3492delG

Surrounding Variants

1 paper

NM_002016.2

p.R1166C

c.3496C>T

12 papers

NM_002016.2

p.A1167G

c.3500C>G

1 paper

NM_002016.2

p.Q1162K

c.3484C>A

1 paper

NM_002016.2

p.E1160K

c.3478G>A

1 paper

NM_002016.2

p.S1171P

c.3511T>C

2 papers

NM_002016.2

p.G1170delFs

c.3510delC

1 paper

NM_002016.2

p.S1171fs

c.3511_3512fs

1 paper

NM_002016.2

p.R1172T

c.3515G>C

1 paper

NM_002016.2

p.R1172S

c.3516G>T

1 paper

NM_002016.2

p.R1172S

c.3516G>C

1 paper

NM_002016.2

p.D1151N

c.3451G>A

1 paper

NM_002016.2

p.S1179C

c.3536C>G