Varaico: Literature-Extracted Genetic Variants

GFAP

1,384 papers

RefSeq Summary

This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this ge...

Pfam Domains

Filament_headaa 1–67UCSCIntermediate filament head (DNA binding) region

Filamentaa 68–376UCSCIntermediate filament protein

Gene Aliases

HGNC Name

glial fibrillary acidic protein

HGNC Alias Symbol

FLJ45472

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_002055.5

p.V87I

c.259G>A

Surrounding Variants

3 papers

NM_002055.5

p.V87F

c.259G>T

6 papers

NM_002055.5

p.V87L

c.259G>C

4 papers

NM_002055.5

p.K86_V87delins

c.256_259delinsGAGT

1 paper

NM_002055.5

p.V87delins

c.259delinsGAGT

26 papers

NM_002055.5

p.V87G

c.260T>G

1 paper

NM_002055.5

p.V87A

c.260T>C

1 paper

NM_002055.5

p.V87D

c.260T>A

1 paper

NM_002055.5

p.K86R

c.257A>G

49 papers

NM_002055.5

p.R88C

c.262C>T

16 papers

NM_002055.5

p.R88S

c.262C>A

3 papers

NM_002055.5

p.K86E

c.256A>G

1 paper

NM_002055.5

p.R88L

c.263G>T