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.N459D

c.1375A>G

Surrounding Variants

3 papers

NM_004476.3

p.N459K

c.1377C>G

3 papers

NM_004476.3

p.N459K

c.1377C>A

1 paper

NM_004476.3

p.Y460F

c.1379A>T

1 paper

NM_004476.3

p.P468L

c.1403C>T

43 papers

NM_004476.3

p.H475Y

c.1423C>T

1 paper

NM_004476.3

p.N476N

c.1428C>T

1 paper

NM_004476.3

p.K479R

c.1436A>G

1 paper

NM_004476.3

p.S455S

c.1365T>G

1 paper

NM_004476.3

p.I450F

c.1348A>T

1 paper

NM_004476.3

p.V447M

c.1339G>A

1 paper

NM_004476.3

p.R445H

c.1334G>A

1 paper

NM_004476.3

p.Q443H

c.1329A>T