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.S45F

c.134C>T

Surrounding Variants

1 paper

NM_004476.3

p.N51K

c.153C>G

1 paper

NM_004476.3

p.N51K

c.153C>A

1 paper

NM_004476.3

p.T53T

c.159T>C

1 paper

NM_004476.3

p.T53delFs

c.158delG

1 paper

NM_004476.3

p.K55*

c.163A>T

2 papers

NM_004476.3

p.M58R

c.173T>G

1 paper

NM_004476.3

p.E64K

c.190G>A

8 papers

NM_004476.3

p.Y75H

c.223T>C

1 paper

NM_004476.3

p.F37insFs

c.110dupT

1 paper

NM_004476.3

p.G36G

c.108C>A

1 paper

NM_004476.3

p.G36S

c.106G>A

1 paper

NM_004476.3

p.L35H

c.104T>A