Varaico: Literature-Extracted Genetic Variants

Gene:SUN5
Variant:p.I166L

SUN5

60 papers

RefSeq Summary

The protein encoded by this gene appears to play a role in the meiotic stage of spermatogenesis. The encoded protein localizes to the junction between the sperm head and body and may be involved in nu...

Pfam Domains

Sad1_UNCaa 231–363UCSCSad1 / UNC-like C-terminal

Gene Aliases

HGNC Name

Sad1 and UNC84 domain containing 5

HGNC Previous Symbol

SPAG4L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_080675.4
p.I166L
c.496A>C
Surrounding Variants
5 papers
NM_080675.4
p.M162K
c.485T>A
2 papers
NM_080675.4
p.R159Q
c.476G>A
2 papers
NM_080675.4
p.R159*
c.475C>T
1 paper
NM_080675.4
p.A174T
c.520G>A
1 paper
NM_080675.4
p.L158F
c.472C>T
1 paper
NM_080675.4
p.A174_M175delFs
c.522_525del4
1 paper
NM_080675.4
p.D177N
c.529G>A
1 paper
NM_080675.4
p.L143_Q145del3
c.427_434del9
3 papers
NM_080675.4
p.L143fs
c.427_428fs
1 paper
NM_080675.4
p.E178_Q179Splc
c.534+41T>C
7 papers
NM_080675.4
p.R142Splc
c.425+1G>A
1 paper
NM_080675.4
p.L138_R142delFs
c.412_425del14
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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."