Varaico: Literature-Extracted Genetic Variants

Gene:SPEF2
Variant:p.I1134delFs

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
8 papers
NM_024867.4
p.I1134delFs
c.3400delA
Surrounding Variants
2 papers
NM_024867.4
p.I1134fs
c.3400_3401fs
1 paper
NM_024867.4
p.I1134fs
c.3400_3401fs
1 paper
NM_024867.4
p.R1131Q
c.3392G>A
1 paper
NM_024867.4
p.G1145R
c.3433G>A
1 paper
NM_024867.4
p.S1153F
c.3458C>T
1 paper
NM_024867.4
p.N1110_D1111Splc
c.3331-11T>C
1 paper
NM_024867.4
p.R1161H
c.3482G>A
1 paper
NM_024867.4
p.T1165fs
c.3493_3494fs
1 paper
NM_024867.4
p.P1181S
c.3541C>T
1 paper
NM_024867.4
p.D1184N
c.3550G>A
1 paper
NM_024867.4
p.D1184_N1185del1
c.3551_3553delACA
1 paper
NM_024867.4
p.S1204N
c.3611G>A
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