Varaico: Literature-Extracted Genetic Variants

Gene:SPEF2
Variant:p.G111*

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.G111*
c.331G>T
Surrounding Variants
1 paper
NM_024867.4
p.L112delFs
c.335_336delTG
1 paper
NM_024867.4
p.G114R
c.340G>A
1 paper
NM_024867.4
p.E116_Q118del0
c.346_354del9
1 paper
NM_024867.4
p.Q105P
c.314A>C
1 paper
NM_024867.4
p.Q118*
c.352C>T
2 papers
NM_024867.4
p.A103D
c.308C>A
1 paper
NM_024867.4
p.L126_R127delFs
c.378_379delAA
1 paper
NM_024867.4
p.R127delFs
c.381delA
1 paper
NM_024867.4
p.Q129R
c.386A>G
1 paper
NM_024867.4
p.N130D
c.388A>G
1 paper
NM_024867.4
p.V81insFs
c.241_242insT
3 papers
NM_024867.4
p.G74S
c.220G>A
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