Varaico: Literature-Extracted Genetic Variants

Gene:INPP5K
Variant:p.S421T

INPP5K

99 papers

RefSeq Summary

This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may ...

Pfam Domains

Exo_endo_phos2aa 19–317UCSCEndonuclease/Exonuclease/phosphatase family 2
SKICHaa 331–431UCSCSKICH domain

Gene Aliases

HGNC Name

inositol polyphosphate-5-phosphatase K

HGNC Alias Symbol

SKIP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016532.4
p.S421T
c.1261T>A
Surrounding Variants
1 paper
NM_016532.4
p.V422M
c.1264G>A
1 paper
NM_016532.4
p.N417_S418delFs
c.1251_1252delTG
1 paper
NM_016532.4
p.G424W
c.1270G>T
2 papers
NM_016532.4
p.N417fs
c.1249_1250fs
1 paper
NM_016532.4
p.I431S
c.1292T>G
1 paper
NM_016532.4
p.P432L
c.1295C>T
1 paper
NM_016532.4
p.R437K
c.1310G>A
1 paper
NM_016532.4
p.P440S
c.1318C>T
2 papers
NM_016532.4
p.D384A
c.1151A>C
1 paper
NM_016532.4
p.S378C
c.1133C>G
1 paper
NM_016532.4
p.V368M
c.1102G>A
1 paper
NM_016532.4
p.G364G
c.1092A>G
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