Varaico: Literature-Extracted Genetic Variants

Gene:SPEF2
Variant:p.R836K

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.R836K
c.2507G>A
Surrounding Variants
1 paper
NM_024867.4
p.D826N
c.2476G>A
1 paper
NM_024867.4
p.N820K
c.2460C>A
1 paper
NM_024867.4
p.N820K
c.2460C>G
1 paper
NM_024867.4
p.D811Y
c.2431G>T
1 paper
NM_024867.4
p.E810G
c.2429A>G
1 paper
NM_024867.4
p.A800fs
c.2398_2399fs
1 paper
NM_024867.4
p.R836Splc
c.2507+128G>A
1 paper
NM_024867.4
p.D842N
c.2524G>A
1 paper
NM_024867.4
p.P854delFs
c.2561_2562delCA
1 paper
NM_024867.4
p.K867Q
c.2599A>C
1 paper
NM_024867.4
p.E868K
c.2602G>A
3 papers
NM_024867.4
p.I877delFs
c.2629delA
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