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.Q91*

c.271C>T

Surrounding Variants

1 paper

NM_004476.3

p.F90Y

c.269T>A

1 paper

NM_004476.3

p.A93T

c.277G>A

1 paper

NM_004476.3

p.G85R

c.253G>C

1 paper

NM_004476.3

p.G85R

c.253G>A

1 paper

NM_004476.3

p.Q97*

c.289C>T

1 paper

NM_004476.3

p.I80insFs

c.240dupA

1 paper

NM_004476.3

p.P81T

c.241C>A

1 paper

NM_004476.3

p.P81fs

c.241_242fs

1 paper

NM_004476.3

p.L105R

c.314T>G

1 paper

NM_004476.3

p.S107A

c.319T>G

9 papers

NM_004476.3

p.Y75H

c.223T>C

3 papers

NM_004476.3

p.V108A

c.323T>C