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.A11A

c.33T>A

Surrounding Variants

1 paper

NM_004476.3

p.V12E

c.35T>A

1 paper

NM_004476.3

p.D9N

c.25G>A

1 paper

NM_004476.3

p.T8N

c.23C>A

1 paper

NM_004476.3

p.T8A

c.22A>G

1 paper

NM_004476.3

p.H6delFs

c.18delG

1 paper

NM_004476.3

p.R17H

c.50G>A

1 paper

NM_004476.3

p.H6Y

c.16C>T

1 paper

NM_004476.3

p.L5delins

c.14delinsA

1 paper

NM_004476.3

p.M1I

c.3G>C

2 papers

NM_004476.3

p.A23T

c.67G>A

1 paper

NM_004476.3

p.G30G

c.90T>C

1 paper

NM_004476.3

p.F32V

c.94T>G