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

6 papers

NM_002016.2

p.Q2154H

c.6462A>T

Surrounding Variants

6 papers

NM_002016.2

p.Q2154H

c.6462A>C

2 papers

NM_002016.2

p.S2152Y

c.6455C>A

1 paper

NM_002016.2

p.G2147A

c.6440G>C

3 papers

NM_002016.2

p.P2144S

c.6430C>T

4 papers

NM_002016.2

p.S2166S

c.6498T>C

1 paper

NM_002016.2

p.P2142L

c.6425C>T

1 paper

NM_002016.2

p.P2142Q

c.6425C>A

1 paper

NM_002016.2

p.P2142T

c.6424C>A

1 paper

NM_002016.2

p.H2168Y

c.6502C>T

1 paper

NM_002016.2

p.H2168P

c.6503A>C

5 papers

NM_002016.2

p.S2169G

c.6505A>G

1 paper

NM_002016.2

p.G2140R

c.6418G>C