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.Q2831*

c.8491C>T

Surrounding Variants

1 paper

NM_002016.2

p.G2833E

c.8498G>A

9 papers

NM_002016.2

p.S2836R

c.8506A>C

1 paper

NM_002016.2

p.S2836I

c.8507G>T

9 papers

NM_002016.2

p.S2836R

c.8508T>G

9 papers

NM_002016.2

p.S2836R

c.8508T>A

1 paper

NM_002016.2

p.S2825F

c.8474C>T

1 paper

NM_002016.2

p.R2842fs

c.8524_8525fs

1 paper

NM_002016.2

p.R2842_N2843del1

c.8525_8527delTAC

1 paper

NM_002016.2

p.N2843K

c.8529T>G

1 paper

NM_002016.2

p.N2843K

c.8529T>A

1 paper

NM_002016.2

p.R2842_N2843del2

c.8524_8528del6

5 papers

NM_002016.2

p.E2844ins1

c.8531_8532insCAA