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

1–12 of 180 variants

43 papers

NM_004476.3

p.H475Y

c.1423C>T

11 papers

NM_004476.3

p.R190W

c.568C>T

9 papers

NM_004476.3

p.Y75H

c.223T>C

8 papers

NM_004476.3

p.Y75H

c.223T>C

5 papers

NM_004476.3

p.G245S

c.733G>A

4 papers

NM_004476.3

p.P160S

c.478C>T

4 papers

NM_004476.3

p.G172G

c.516C>T

4 papers

NM_004476.3

p.Y176H

c.526T>C

4 papers

NM_004476.3

p.A222V

c.665C>T

4 papers

NM_004476.3

p.I297V

c.889A>G

4 papers

NM_004476.3

p.E433A

c.1298A>C

3 papers

NM_004476.3

p.V108A

c.323T>C