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.T3143insFs

c.9428_9429ins5

Surrounding Variants

1 paper

NM_002016.2

p.S3141delFs

c.9422_9423delGC

2 papers

NM_002016.2

p.S3145P

c.9433T>C

1 paper

NM_002016.2

p.Q3146H

c.9438G>T

1 paper

NM_002016.2

p.Q3146H

c.9438G>C

1 paper

NM_002016.2

p.S3149F

c.9446C>T

1 paper

NM_002016.2

p.R3153C

c.9457C>T

1 paper

NM_002016.2

p.S3132R

c.9396C>G

1 paper

NM_002016.2

p.S3132R

c.9396C>A

1 paper

NM_002016.2

p.S3132R

c.9394A>C

1 paper

NM_002016.2

p.S3158P

c.9472T>C

1 paper

NM_002016.2

p.S3160R

c.9478A>C

1 paper

NM_002016.2

p.S3160R

c.9480T>G