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.I297V

c.889A>G

Surrounding Variants

1 paper

NM_004476.3

p.V294A

c.881T>C

1 paper

NM_004476.3

p.Y300C

c.899A>G

1 paper

NM_004476.3

p.L305F

c.913C>T

1 paper

NM_004476.3

p.G282*

c.844G>T

1 paper

NM_004476.3

p.R281L

c.842G>T

3 papers

NM_004476.3

p.R281H

c.842G>A

1 paper

NM_004476.3

p.R281C

c.841C>T

1 paper

NM_004476.3

p.Y277Y

c.831T>C

1 paper

NM_004476.3

p.Y272N

c.814T>A

1 paper

NM_004476.3

p.T269S

c.805A>T

1 paper

NM_004476.3

p.T269A

c.805A>G

1 paper

NM_004476.3

p.L268F

c.802C>T