Varaico: Literature-Extracted Genetic Variants

Gene:SPEF2
Variant:p.K1308insFs

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
5 papers
NM_024867.4
p.K1308insFs
c.3922dupA
Surrounding Variants
2 papers
NM_024867.4
p.K1307fs
c.3919_3920fs
1 paper
NM_024867.4
p.Q1310fs
c.3928_3929fs
1 paper
NM_024867.4
p.P1315L
c.3944C>T
1 paper
NM_024867.4
p.H1273Y
c.3817C>T
1 paper
NM_024867.4
p.A1269T
c.3805G>A
4 papers
NM_024867.4
p.R1366*
c.4096C>T
2 papers
NM_024867.4
p.E1368*
c.4102G>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.M1267_V1268Splc
c.3801+892C>T
1 paper
NM_024867.4
p.M1267_V1268Splc
c.3801+799A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."