Varaico: Literature-Extracted Genetic Variants

Gene:INPP5K
Variant:p.G364G

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.G364G
c.1092A>G
Surrounding Variants
3 papers
NM_016532.4
p.I363T
c.1088T>C
1 paper
NM_016532.4
p.W362delFs
c.1084delA
1 paper
NM_016532.4
p.D361G
c.1082A>G
1 paper
NM_016532.4
p.S353P
c.1057T>C
1 paper
NM_016532.4
p.V347L
c.1039G>C
1 paper
NM_016532.4
p.E336*
c.1006G>T
1 paper
NM_016532.4
p.V368M
c.1102G>A
1 paper
NM_016532.4
p.S378C
c.1133C>G
2 papers
NM_016532.4
p.D384A
c.1151A>C
2 papers
NM_016532.4
p.N417fs
c.1249_1250fs
1 paper
NM_016532.4
p.N417_S418delFs
c.1251_1252delTG
1 paper
NM_016532.4
p.S421T
c.1261T>A
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."