Varaico: Literature-Extracted Genetic Variants

Gene:SPEF2
Variant:p.I348N

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.I348N
c.1043T>A
Surrounding Variants
1 paper
NM_024867.4
p.R346_H354del9
c.1036_1061del27
1 paper
NM_024867.4
p.H357insFs
c.1069_1070insAC
1 paper
NM_024867.4
p.I335_N336del2
c.1003_1007del6
1 paper
NM_024867.4
p.N365delFs
c.1095delC
4 papers
NM_024867.4
p.R366K
c.1097G>A
1 paper
NM_024867.4
p.R366I
c.1097G>T
1 paper
NM_024867.4
p.R330R
c.988C>A
1 paper
NM_024867.4
p.R330W
c.988C>T
1 paper
NM_024867.4
p.E327K
c.979G>A
1 paper
NM_024867.4
p.E327*
c.979G>T
2 papers
NM_024867.4
p.R377Q
c.1130G>A
1 paper
NM_024867.4
p.L378_K379del2
c.1132_1136del6
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