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.H1180_H1181del2

c.3538_3542del6

Surrounding Variants

1 paper

NM_002016.2

p.H1180_H1181del1

c.3540_3542delTGG

1 paper

NM_002016.2

p.H1181Y

c.3541C>T

1 paper

NM_002016.2

p.S1184L

c.3551C>T

3 papers

NM_002016.2

p.S1184*

c.3551C>A

1 paper

NM_002016.2

p.S1179C

c.3536C>G

1 paper

NM_002016.2

p.R1187S

c.3561A>T

1 paper

NM_002016.2

p.R1187S

c.3561A>C

1 paper

NM_002016.2

p.S1188Y

c.3563C>A

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.R1172T

c.3515G>C

1 paper

NM_002016.2

p.G1192R

c.3574G>C