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

11 papers

NM_004476.3

p.R190W

c.568C>T

Surrounding Variants

3 papers

NM_004476.3

p.D191V

c.572A>T

1 paper

NM_004476.3

p.T182T

c.546T>A

4 papers

NM_004476.3

p.Y176H

c.526T>C

1 paper

NM_004476.3

p.R204*

c.610A>T

1 paper

NM_004476.3

p.Y205D

c.613T>G

3 papers

NM_004476.3

p.G206R

c.616G>C

3 papers

NM_004476.3

p.G206R

c.616G>A

1 paper

NM_004476.3

p.G206A

c.617G>C

1 paper

NM_004476.3

p.D173Y

c.517G>T

4 papers

NM_004476.3

p.G172G

c.516C>T

1 paper

NM_004476.3

p.K207R

c.620A>G

1 paper

NM_004476.3

p.V208A

c.623T>C