Varaico: Literature-Extracted Genetic Variants

Gene:HORMAD1

HORMAD1

46 papers

RefSeq Summary

This gene encodes a HORMA domain-containing protein. HORMA domains are involved in chromatin binding and play a role in cell cycle regulation. The encoded protein may play a role in meiosis, and expre...

Pfam Domains

HORMAaa 26–220UCSCHORMA domain

Gene Aliases

HGNC Name

HORMA domain containing 1

HGNC Alias Symbols

DKFZP434A1315; CT46

Papers
RefSeq ID
Protein change
DNA change
1–12 of 80 variants
6 papers
NM_032132.5
p.T267I
c.800C>T
3 papers
NM_032132.5
p.Q341*
c.1021C>T
2 papers
NM_032132.5
p.T55A
c.163A>G
2 papers
NM_032132.5
p.D87del1
c.259_260delATC
2 papers
NM_032132.5
p.K276insFs
c.827dupA
2 papers
NM_032132.5
p.N283fs
c.847_848fs
2 papers
NM_032132.5
p.N283insFs
c.848dupA
1 paper
NM_032132.5
p.M1V
c.1A>G
1 paper
NM_032132.5
p.A2insFs
c.5_6insT
1 paper
NM_032132.5
p.E23*
c.67G>T
1 paper
NM_032132.5
p.Q25*
c.73C>T
1 paper
NM_032132.5
p.A35insFs
c.103dupG
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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."