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

3 papers

NM_002016.2

p.R1059I

c.3176G>T

Surrounding Variants

1 paper

NM_002016.2

p.G1062R

c.3184G>C

1 paper

NM_002016.2

p.G1062R

c.3184G>A

4 papers

NM_002016.2

p.W1064*

c.3191G>A

4 papers

NM_002016.2

p.W1064*

c.3192G>A

1 paper

NM_002016.2

p.Q1053Q

c.3159A>G

1 paper

NM_002016.2

p.Q1053K

c.3157C>A

2 papers

NM_002016.2

p.R1052G

c.3154A>G

1 paper

NM_002016.2

p.R1051H

c.3152G>A

1 paper

NM_002016.2

p.P1050P

c.3150G>A

2 papers

NM_002016.2

p.P1050L

c.3149C>T

1 paper

NM_002016.2

p.I1049delFs

c.3145delT

3 papers

NM_002016.2

p.Q1070*

c.3208C>T