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.I2462T

c.7385T>C

Surrounding Variants

1 paper

NM_002016.2

p.H2463D

c.7387C>G

3 papers

NM_002016.2

p.Q2459*

c.7375C>T

1 paper

NM_002016.2

p.G2458A

c.7373G>C

1 paper

NM_002016.2

p.P2466L

c.7397C>T

1 paper

NM_002016.2

p.P2466Q

c.7397C>A

3 papers

NM_002016.2

p.P2466P

c.7398G>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.Q2456K

c.7366C>A

3 papers

NM_002016.2

p.S2470R

c.7408A>C

3 papers

NM_002016.2

p.S2470R

c.7410T>G