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

4 papers

NM_002016.2

p.S3398S

c.10194T>C

Surrounding Variants

1 paper

NM_002016.2

p.E3397delFs

c.10191delC

1 paper

NM_002016.2

p.E3397fs

c.10189_10190fs

1 paper

NM_002016.2

p.H3393_S3396del4

c.10177_10187del12

1 paper

NM_002016.2

p.G3401G

c.10203G>A

1 paper

NM_002016.2

p.R3402Q

c.10205G>A

1 paper

NM_002016.2

p.Q3395*

c.10183C>T

1 paper

NM_002016.2

p.R3402R

c.10206G>C

1 paper

NM_002016.2

p.T3403T

c.10209C>A

2 papers

NM_002016.2

p.H3393R

c.10178A>G

1 paper

NM_002016.2

p.R3404G

c.10210A>G

1 paper

NM_002016.2

p.R3404K

c.10211G>A

1 paper

NM_002016.2

p.T3405P

c.10213A>C