Varaico: Literature-Extracted Genetic Variants

Gene:HORMAD1
Variant:p.E290G

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
Selected Variant
1 paper
NM_032132.5
p.E290G
c.869A>G
Surrounding Variants
1 paper
NM_032132.5
p.L289_E290del2
c.865_869del6
1 paper
NM_032132.5
p.S287Y
c.860C>A
1 paper
NM_032132.5
p.P284insFs
c.851_852insT
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.K282Q
c.844A>C
2 papers
NM_032132.5
p.K276insFs
c.827dupA
1 paper
NM_032132.5
p.T275P
c.823A>C
1 paper
NM_032132.5
p.D269_L271delFs
c.805_812del8
1 paper
NM_032132.5
p.E291insFs
c.872_873insT
1 paper
NM_032132.5
p.S311Y
c.932C>A
1 paper
NM_032132.5
p.S313F
c.938C>T
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