Varaico: Literature-Extracted Genetic Variants

Gene:ZER1
Variant:p.D556A

ZER1

36 papers

RefSeq Summary

This gene encodes a subunit of an E3 ubiquitin ligase complex that may be involved in meiosis. The encoded protein contains three leucine-rich repeat motifs. [provided by RefSeq, Nov 2012].

Pfam Domains

LRR_Zer-1aa 192–334UCSCZer-1-like, Leucine-rich repeats
ZER1-like_2ndaa 399–756UCSCProtein zer-1 homolog-like, C-terminal domain

Gene Aliases

HGNC Name

zyg-11 related cell cycle regulator

HGNC Previous Symbols

C9orf60; ZYG11BL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_006336.4
p.D556A
c.1667A>C
Surrounding Variants
1 paper
NM_006336.4
p.W552*
c.1656G>A
1 paper
NM_006336.4
p.W552*
c.1655G>A
1 paper
NM_006336.4
p.E545Q
c.1633G>C
1 paper
NM_006336.4
p.P606A
c.1816C>G
1 paper
NM_006336.4
p.P606P
c.1818T>C
1 paper
NM_006336.4
p.Q607*
c.1819C>T
1 paper
NM_006336.4
p.Q607Q
c.1821A>G
1 paper
NM_006336.4
p.F613F
c.1839C>T
1 paper
NM_006336.4
p.V454M
c.1360G>A
1 paper
NM_006336.4
p.E647K
c.1939G>A
1 paper
NM_006336.4
p.L690P
c.2069T>C
1 paper
NM_006336.4
p.L690L
c.2070T>C
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