Varaico: Literature-Extracted Genetic Variants

Gene:HMSD

HMSD

7 papers

RefSeq Summary

This gene encodes a serpin-domain containing protein that may function as a serine protease inhibitor. This gene is primarily expressed in cells of myeloid lineage. A polymorphism in this gene may res...

Pfam Domains

Serpinaa 1–120UCSCSerpin (serine protease inhibitor)

Gene Aliases

HGNC Name

histocompatibility minor serpin domain containing

HGNC Previous Symbol

C18orf53

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_001123366.2
p.K15Q
c.43A>C
1 paper
NM_001123366.2
p.A25T
c.73G>A
1 paper
NM_001123366.2
p.L26F
c.76C>T
1 paper
NM_001123366.2
p.I31I
c.93C>T
1 paper
NM_001123366.2
p.D35_R40delFs
c.105_120del16
1 paper
NM_001123366.2
p.D35fs
c.103_104fs
1 paper
NM_001123366.2
p.D96Y
c.286G>T
1 paper
NM_001123366.2
p.N105_F120del16
c.313_359del48
1 paper
NM_001123366.2
p.F120S
c.359T>C
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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."