Varaico: Literature-Extracted Genetic Variants

TRHDE

37 papers

RefSeq Summary

This gene encodes a member of the peptidase M1 family. The encoded protein is an extracellular peptidase that specifically cleaves and inactivates the neuropeptide thyrotropin-releasing hormone.[provi...

Pfam Domains

Peptidase_M1_Naa 191–376UCSCPeptidase M1 N-terminal domain

Peptidase_M1aa 413–636UCSCPeptidase family M1 domain

ERAP1_Caa 723–1050UCSCERAP1-like C-terminal domain

Gene Aliases

HGNC Name

thyrotropin releasing hormone degrading enzyme

HGNC Alias Symbols

PGPEP2; TRH-DE; PAP-II

Papers

RefSeq ID

Protein change

DNA change

1–12 of 37 variants

1 paper

NM_013381.3

p.G5R

c.13G>C

1 paper

NM_013381.3

p.E6del1

c.16_18delGAG

1 paper

NM_013381.3

p.L7L

c.19C>T

1 paper

NM_013381.3

p.K16_K18del3

c.46_53del9

1 paper

NM_013381.3

p.K24T

c.71A>C

1 paper

NM_013381.3

p.E31V

c.92A>T

1 paper

NM_013381.3

p.E76G

c.227A>G

1 paper

NM_013381.3

p.R143H

c.428G>A

1 paper

NM_013381.3

p.S161T

c.482G>C

1 paper

NM_013381.3

p.I216S

c.647T>G

1 paper

NM_013381.3

p.E235fs

c.703_704fs

1 paper

NM_013381.3

p.E235delFs

c.705delG