Varaico: Literature-Extracted Genetic Variants

Gene:SPEF2
Variant:p.M510delFs

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.M510delFs
c.1529delT
Surrounding Variants
1 paper
NM_024867.4
p.E513D
c.1539G>C
1 paper
NM_024867.4
p.E513D
c.1539G>T
1 paper
NM_024867.4
p.S543insFs
c.1628dupC
1 paper
NM_024867.4
p.P545S
c.1633C>T
5 papers
NM_024867.4
p.R547*
c.1639C>T
1 paper
NM_024867.4
p.E549*
c.1645G>T
1 paper
NM_024867.4
p.P556L
c.1667C>T
1 paper
NM_024867.4
p.A559S
c.1675G>T
1 paper
NM_024867.4
p.L564L
c.1692A>G
1 paper
NM_024867.4
p.K581delFs
c.1743delA
2 papers
NM_024867.4
p.D582Splc
c.1745-2A>G
1 paper
NM_024867.4
p.P584S
c.1750C>T
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