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.G2327R

c.6979G>A

Surrounding Variants

1 paper

NM_002016.2

p.G2327R

c.6979G>C

3 papers

NM_002016.2

p.A2326P

c.6976G>C

1 paper

NM_002016.2

p.E2328E

c.6984G>A

1 paper

NM_002016.2

p.R2329del1

c.6985_6986delTCT

4 papers

NM_002016.2

p.H2330H

c.6990C>T

4 papers

NM_002016.2

p.S2318_Q2321del4

c.6952_6962del12

1 paper

NM_002016.2

p.H2333R

c.6998A>G

11 papers

NM_002016.2

p.S2317_H2319delFs

c.6950_6957del8

1 paper

NM_002016.2

p.Q2336*

c.7006C>T

3 papers

NM_002016.2

p.S2317fs

c.6949_6950fs

5 papers

NM_002016.2

p.S2317*

c.6950C>G

5 papers

NM_002016.2

p.S2317*

c.6950C>A