Varaico: Literature-Extracted Genetic Variants

Gene:SPATC1
Variant:p.V248fs

SPATC1

50 papers

Pfam Domains

Speriolin_Naa 1–228UCSCSperiolin N terminus
Speriolin_Caa 445–591UCSCSperiolin C-terminus

Gene Aliases

HGNC Name

spermatogenesis and centriole associated 1

HGNC Alias Symbols

MGC61633; SPATA15; SPERIOLIN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198572.3
p.V248fs
c.742_743fs
Surrounding Variants
1 paper
NM_198572.3
p.V248delFs
c.744delG
1 paper
NM_198572.3
p.G237R
c.709G>A
1 paper
NM_198572.3
p.G237R
c.709G>C
1 paper
NM_198572.3
p.P206T
c.616C>A
1 paper
NM_198572.3
p.P262insFs
c.784dupC
1 paper
NM_198572.3
p.P262delFs
c.785delC
1 paper
NM_198572.3
p.P262fs
c.784_785fs
1 paper
NM_198572.3
p.P262L
c.785C>T
1 paper
NM_198572.3
p.S197I
c.590G>T
1 paper
NM_198572.3
p.V191M
c.571G>A
1 paper
NM_198572.3
p.T190M
c.569C>T
1 paper
NM_198572.3
p.T283I
c.848C>T
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