Varaico: Literature-Extracted Genetic Variants

Gene:SPEF2
Variant:p.D279N

SPEF2

174 papers

Pfam Domains

CH_2aa 5–102UCSCCH-like domain in sperm protein
SPEF2_D5aa 338–471UCSCCPC1/SPEF2 domain D5
SPEF2_Caa 1463–1659UCSCSPEF2 C-terminal domain

Gene Aliases

HGNC Name

sperm flagellar 2

HGNC Alias Symbols

KPL2; FLJ23577; CT122

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024867.4
p.D279N
c.835G>A
Surrounding Variants
1 paper
NM_024867.4
p.D287D
c.861C>T
1 paper
NM_024867.4
p.R296H
c.887G>A
1 paper
NM_024867.4
p.E298K
c.892G>A
1 paper
NM_024867.4
p.A301G
c.902C>G
1 paper
NM_024867.4
p.A303T
c.907G>A
7 papers
NM_024867.4
p.R304*
c.910C>T
1 paper
NM_024867.4
p.E305Q
c.913G>C
1 paper
NM_024867.4
p.R312W
c.934C>T
1 paper
NM_024867.4
p.A321V
c.962C>T
1 paper
NM_024867.4
p.H322Q
c.966C>A
1 paper
NM_024867.4
p.H322Q
c.966C>G
1 paper
NM_024867.4
p.E327K
c.979G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."