Varaico: Literature-Extracted Genetic Variants

Gene:SPEF2
Variant:p.V1221L

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.V1221L
c.3661G>C
Surrounding Variants
1 paper
NM_024867.4
p.T1222I
c.3665C>T
1 paper
NM_024867.4
p.E1219K
c.3655G>A
1 paper
NM_024867.4
p.K1228delFs
c.3684delA
1 paper
NM_024867.4
p.I1214V
c.3640A>G
1 paper
NM_024867.4
p.K1228fs
c.3682_3683fs
1 paper
NM_024867.4
p.E1250K
c.3748G>A
1 paper
NM_024867.4
p.M1267_V1268Splc
c.3801+783G>A
1 paper
NM_024867.4
p.M1267_V1268Splc
c.3801+799A>G
1 paper
NM_024867.4
p.M1267_V1268Splc
c.3801+892C>T
2 papers
NM_024867.4
p.R1207K
c.3620G>A
1 paper
NM_024867.4
p.S1204N
c.3611G>A
1 paper
NM_024867.4
p.S1204I
c.3611G>T
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