Varaico: Literature-Extracted Genetic Variants

Gene:SUN5
Variant:p.R142Splc

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
7 papers
NM_080675.4
p.R142Splc
c.425+1G>A
Surrounding Variants
1 paper
NM_080675.4
p.L138_R142delFs
c.412_425del14
1 paper
NM_080675.4
p.Q139*
c.415C>T
1 paper
NM_080675.4
p.D131delFs
c.393delA
1 paper
NM_080675.4
p.Q130_D131Splc
c.391-14C>T
3 papers
NM_080675.4
p.L143fs
c.427_428fs
1 paper
NM_080675.4
p.L143_Q145del3
c.427_434del9
1 paper
NM_080675.4
p.L158F
c.472C>T
2 papers
NM_080675.4
p.R159*
c.475C>T
2 papers
NM_080675.4
p.R159Q
c.476G>A
5 papers
NM_080675.4
p.M162K
c.485T>A
1 paper
NM_080675.4
p.I166L
c.496A>C
1 paper
NM_080675.4
p.A174T
c.520G>A
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