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.D422E

c.1266T>G

Surrounding Variants

1 paper

NM_004476.3

p.D422E

c.1266T>A

3 papers

NM_004476.3

p.E424A

c.1271A>C

1 paper

NM_004476.3

p.G430D

c.1289G>A

4 papers

NM_004476.3

p.E433A

c.1298A>C

1 paper

NM_004476.3

p.W434G

c.1300T>G

1 paper

NM_004476.3

p.E436A

c.1307A>C

1 paper

NM_004476.3

p.Q443H

c.1329A>T

1 paper

NM_004476.3

p.R445H

c.1334G>A

1 paper

NM_004476.3

p.V447M

c.1339G>A

1 paper

NM_004476.3

p.I450F

c.1348A>T

1 paper

NM_004476.3

p.S455S

c.1365T>G

1 paper

NM_004476.3

p.V399G

c.1196T>G