Varaico: Literature-Extracted Genetic Variants

Gene:SPEF2
Variant:p.Q489H

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.Q489H
c.1467A>C
Surrounding Variants
1 paper
NM_024867.4
p.Q489H
c.1467A>T
1 paper
NM_024867.4
p.L490F
c.1468C>T
2 papers
NM_024867.4
p.D500N
c.1498G>A
1 paper
NM_024867.4
p.D503V
c.1508A>T
1 paper
NM_024867.4
p.Q475P
c.1424A>C
1 paper
NM_024867.4
p.Y473*
c.1419T>A
1 paper
NM_024867.4
p.Y473*
c.1419T>G
1 paper
NM_024867.4
p.L458L
c.1372T>C
1 paper
NM_024867.4
p.I454N
c.1361T>A
1 paper
NM_024867.4
p.R447Q
c.1340G>A
1 paper
NM_024867.4
p.R447*
c.1339C>T
4 papers
NM_024867.4
p.R421H
c.1262G>A
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