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.S107A

c.319T>G

Surrounding Variants

3 papers

NM_004476.3

p.V108A

c.323T>C

1 paper

NM_004476.3

p.L105R

c.314T>G

1 paper

NM_004476.3

p.E109D

c.327G>T

1 paper

NM_004476.3

p.E109D

c.327G>C

3 papers

NM_004476.3

p.A111A

c.333A>T

1 paper

NM_004476.3

p.D114E

c.342T>G

1 paper

NM_004476.3

p.D114E

c.342T>A

1 paper

NM_004476.3

p.L116R

c.347T>G

1 paper

NM_004476.3

p.Q97*

c.289C>T

1 paper

NM_004476.3

p.A93T

c.277G>A

1 paper

NM_004476.3

p.N121Y

c.361A>T

1 paper

NM_004476.3

p.Q91*

c.271C>T