Varaico: Literature-Extracted Genetic Variants

Gene:ERMP1

ERMP1

47 papers

Pfam Domains

Peptidase_M28aa 185–379UCSCPeptidase family M28
ERMP1-TMaa 446–667UCSCEndoplasmic reticulum metallopeptidase 1, TM domain
ERMP1_Caa 681–902UCSCEndoplasmic reticulum metallopeptidase 1, C-terminal domain

Gene Aliases

HGNC Name

endoplasmic reticulum metallopeptidase 1

HGNC Previous Symbol

KIAA1815

Papers
RefSeq ID
Protein change
DNA change
1–12 of 63 variants
1 paper
NM_024896.3
p.R34_A35del1
c.102_104delGCT
1 paper
NM_024896.3
p.S44N
c.131G>A
1 paper
NM_024896.3
p.R50L
c.149G>T
1 paper
NM_024896.3
p.A60V
c.179C>T
1 paper
NM_024896.3
p.T66I
c.197C>T
1 paper
NM_024896.3
p.L79P
c.236T>C
1 paper
NM_024896.3
p.I82M
c.246C>G
1 paper
NM_024896.3
p.R85L
c.254G>T
1 paper
NM_024896.3
p.S91W
c.272C>G
1 paper
NM_024896.3
p.H103Q
c.309C>G
1 paper
NM_024896.3
p.H103Q
c.309C>A
1 paper
NM_024896.3
p.G102_R104del3
c.304_311del9
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."