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.S2449R

c.7347C>G

Surrounding Variants

254 papers

NM_002016.2

p.R2447*

c.7339C>T

2 papers

NM_002016.2

p.S2453*

c.7358C>G

2 papers

NM_002016.2

p.S2453*

c.7358C>A

1 paper

NM_002016.2

p.T2454A

c.7360A>G

1 paper

NM_002016.2

p.Q2445delFs

c.7333delG

15 papers

NM_002016.2

p.K2444E

c.7330A>G

1 paper

NM_002016.2

p.Q2456K

c.7366C>A

1 paper

NM_002016.2

p.E2457D

c.7371G>T

1 paper

NM_002016.2

p.E2457D

c.7371G>C

1 paper

NM_002016.2

p.E2457E

c.7371G>A

1 paper

NM_002016.2

p.G2458A

c.7373G>C

1 paper

NM_002016.2

p.G2440E

c.7319G>A