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.S1074_E1075del2

c.3220_3224del6

Surrounding Variants

7 papers

NM_002016.2

p.S1074_E1075delFs

c.3222_3225del4

3 papers

NM_002016.2

p.S1074fs

c.3220_3221fs

3 papers

NM_002016.2

p.S1074fs

c.3220_3221fs

1 paper

NM_002016.2

p.S1069_Q1070delFs

c.3207_3210del4

3 papers

NM_002016.2

p.Q1070*

c.3208C>T

1 paper

NM_002016.2

p.Q1084fs

c.3250_3251fs

2 papers

NM_002016.2

p.Q1084delFs

c.3250_3251delTG

1 paper

NM_002016.2

p.S1085fs

c.3253_3254fs

1 paper

NM_002016.2

p.S1085_V1086delFs

c.3254_3257del4

4 papers

NM_002016.2

p.W1064*

c.3192G>A

4 papers

NM_002016.2

p.W1064*

c.3191G>A

2 papers

NM_002016.2

p.G1088D

c.3263G>A