Varaico: Literature-Extracted Genetic Variants

FOLH1

266 papers

RefSeq Summary

This gene encodes a type II transmembrane glycoprotein belonging to the M28 peptidase family. The protein acts as a glutamate carboxypeptidase on different alternative substrates, including the nutrie...

Pfam Domains

PAaa 170–261UCSCPA domain

Peptidase_M28aa 357–564UCSCPeptidase family M28

TFR_dimeraa 627–747UCSCTransferrin receptor-like dimerisation domain

Gene Aliases

HGNC Name

folate hydrolase 1

HGNC Alias Symbols

PSM; NAALAD1; NAALAdase; GCP2; GCPII

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004476.3

p.G311S

c.931G>A

Surrounding Variants

1 paper

NM_004476.3

p.P314L

c.941C>T

1 paper

NM_004476.3

p.S317I

c.950G>T

1 paper

NM_004476.3

p.V325M

c.973G>A

1 paper

NM_004476.3

p.P326S

c.976C>T

1 paper

NM_004476.3

p.S338F

c.1013C>T

1 paper

NM_004476.3

p.S338S

c.1014T>C

1 paper

NM_004476.3

p.G360S

c.1078G>A

1 paper

NM_004476.3

p.R378Q

c.1133G>A

1 paper

NM_004476.3

p.D379E

c.1137C>G

1 paper

NM_004476.3

p.P388S

c.1162C>T

1 paper

NM_004476.3

p.A392A

c.1176A>C

1 paper

NM_004476.3

p.I398T

c.1193T>C