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.T3696A

c.11086A>G

Surrounding Variants

1 paper

NM_002016.2

p.R3697H

c.11090G>A

3 papers

NM_002016.2

p.E3694Q

c.11080G>C

1 paper

NM_002016.2

p.G3698D

c.11093G>A

1 paper

NM_002016.2

p.Q3693K

c.11077C>A

1 paper

NM_002016.2

p.R3699Q

c.11096G>A

2 papers

NM_002016.2

p.A3701G

c.11102C>G

1 paper

NM_002016.2

p.A3701A

c.11103A>G

1 paper

NM_002016.2

p.G3702R

c.11104G>C

1 paper

NM_002016.2

p.G3702R

c.11104G>A

2 papers

NM_002016.2

p.G3702E

c.11105G>A

1 paper

NM_002016.2

p.Q3689*

c.11065C>T

1 paper

NM_002016.2

p.R3703K

c.11108G>A