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

4 papers

NM_004476.3

p.A222V

c.665C>T

Surrounding Variants

1 paper

NM_004476.3

p.A217T

c.649G>A

1 paper

NM_004476.3

p.K215E

c.643A>G

1 paper

NM_004476.3

p.D230D

c.690C>T

2 papers

NM_004476.3

p.D233D

c.699C>T

1 paper

NM_004476.3

p.A236P

c.706G>C

1 paper

NM_004476.3

p.G238G

c.714G>T

1 paper

NM_004476.3

p.D244D

c.732T>C

5 papers

NM_004476.3

p.G245S

c.733G>A

1 paper

NM_004476.3

p.G245D

c.734G>A

1 paper

NM_004476.3

p.G251S

c.751G>A

1 paper

NM_004476.3

p.R255C

c.763C>T

1 paper

NM_004476.3

p.R255G

c.763C>G