Varaico: Literature-Extracted Genetic Variants

Gene:SPEF2
Variant:p.E1368*

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
2 papers
NM_024867.4
p.E1368*
c.4102G>T
Surrounding Variants
4 papers
NM_024867.4
p.R1366*
c.4096C>T
1 paper
NM_024867.4
p.V1388A
c.4163T>C
1 paper
NM_024867.4
p.G1397C
c.4189G>T
1 paper
NM_024867.4
p.S1406fs
c.4216_4217fs
1 paper
NM_024867.4
p.D1412D
c.4236C>T
1 paper
NM_024867.4
p.R1415L
c.4244G>T
1 paper
NM_024867.4
p.Y1416C
c.4247A>G
1 paper
NM_024867.4
p.I1441fs
c.4321_4322fs
2 papers
NM_024867.4
p.I1441insFs
c.4323dupA
1 paper
NM_024867.4
p.V1443fs
c.4327_4328fs
1 paper
NM_024867.4
p.D1446N
c.4336G>A
1 paper
NM_024867.4
p.T1463I
c.4388C>T
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