Varaico: Literature-Extracted Genetic Variants

Gene:SUN5
Variant:p.W72*

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
5 papers
NM_080675.4
p.W72*
c.215G>A
Surrounding Variants
6 papers
NM_080675.4
p.W72*
c.216G>A
2 papers
NM_080675.4
p.S71fs
c.211_212fs
1 paper
NM_080675.4
p.L80L
c.238C>T
1 paper
NM_080675.4
p.C75_L80insFs
c.224_240dup17
1 paper
NM_080675.4
p.Q85*
c.253C>T
1 paper
NM_080675.4
p.L97L
c.291G>A
1 paper
NM_080675.4
p.L101insFs
c.302dupT
1 paper
NM_080675.4
p.T105S
c.313A>T
1 paper
NM_080675.4
p.L110F
c.328C>T
1 paper
NM_080675.4
p.A112T
c.334G>A
1 paper
NM_080675.4
p.A112delFs
c.335_336delAG
4 papers
NM_080675.4
p.G114R
c.340G>A
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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."