Varaico: Literature-Extracted Genetic Variants

Gene:SUN5
Variant:p.Q130_D131Splc

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.Q130_D131Splc
c.390+12C>A
Surrounding Variants
1 paper
NM_080675.4
p.Q130_D131Splc
c.390+29A>G
1 paper
NM_080675.4
p.V128fs
c.382_383fs
9 papers
NM_080675.4
p.K127delFs
c.381delT
7 papers
NM_080675.4
p.V128fs
c.382_383fs
1 paper
NM_080675.4
p.M126_K127delFs
c.378_379delTC
1 paper
NM_080675.4
p.K125delFs
c.375delT
1 paper
NM_080675.4
p.H121Y
c.361C>T
5 papers
NM_080675.4
p.G114R
c.340G>C
5 papers
NM_080675.4
p.G114R
c.340G>A
1 paper
NM_080675.4
p.G114Splc
c.341-52G>A
1 paper
NM_080675.4
p.G114Splc
c.341-56C>G
1 paper
NM_080675.4
p.Q130_D131Splc
c.391-14C>T
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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."