Varaico: Literature-Extracted Genetic Variants

Gene:HORMAD1
Variant:p.V63D

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.V63D
c.188T>A
Surrounding Variants
1 paper
NM_032132.5
p.D60Y
c.178G>T
1 paper
NM_032132.5
p.L78fs
c.232_233fs
2 papers
NM_032132.5
p.D87del1
c.259_260delATC
1 paper
NM_032132.5
p.Y93_L94Splc
c.279+845A>G
1 paper
NM_032132.5
p.D60Y
c.178G>T
1 paper
NM_032132.5
p.Y57*
c.171T>G
1 paper
NM_032132.5
p.Y57*
c.171T>A
2 papers
NM_032132.5
p.T55A
c.163A>G
1 paper
NM_032132.5
p.I47K
c.140T>A
1 paper
NM_032132.5
p.R45_G46delFs
c.135_136delCC
1 paper
NM_032132.5
p.G46V
c.137G>T
1 paper
NM_032132.5
p.V38A
c.113T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."