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

194 papers

NM_002016.2

p.S3247*

c.9740C>A

Surrounding Variants

191 papers

NM_002016.2

p.S3247*

c.9740C>G

1 paper

NM_002016.2

p.Q3244H

c.9732G>T

1 paper

NM_002016.2

p.Q3244H

c.9732G>C

2 papers

NM_002016.2

p.G3250S

c.9748G>A

1 paper

NM_002016.2

p.S3242F

c.9725C>T

1 paper

NM_002016.2

p.G3241fs

c.9721_9722fs

3 papers

NM_002016.2

p.G3241delFs

c.9722delC

1 paper

NM_002016.2

p.G3241fs

c.9721_9722fs

2 papers

NM_002016.2

p.R3240H

c.9719G>A

1 paper

NM_002016.2

p.P3254H

c.9761C>A

1 paper

NM_002016.2

p.H3258L

c.9773A>T

2 papers

NM_002016.2

p.H3258Q

c.9774C>G