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.S950G

c.2848A>G

Surrounding Variants

1 paper

NM_002016.2

p.Q948delFs

c.2842_2843delTG

1 paper

NM_002016.2

p.Q948*

c.2842C>T

1 paper

NM_002016.2

p.S952I

c.2855G>T

3 papers

NM_002016.2

p.E953Q

c.2857G>C

1 paper

NM_002016.2

p.S945delFs

c.2834delC

1 paper

NM_002016.2

p.S945fs

c.2833_2834fs

3 papers

NM_002016.2

p.H955H

c.2865T>C

1 paper

NM_002016.2

p.E957delFs

c.2871delT

2 papers

NM_002016.2

p.R941H

c.2822G>A

5 papers

NM_002016.2

p.R941C

c.2821C>T

3 papers

NM_002016.2

p.T938R

c.2813C>G

8 papers

NM_002016.2

p.W962R

c.2884T>C