Varaico: Literature-Extracted Genetic Variants

Gene:SACM1L

SACM1L

56 papers

RefSeq Summary

This gene encodes an integral membrane protein, which is localized to the endoplasmic reticulum, and functions as a phosphoinositide phosphatase that hydrolyzes phosphatidylinositol 3-phosphate, phosp...

Pfam Domains

Syja_Naa 58–345UCSCSacI homology domain

Gene Aliases

HGNC Name

SAC1 like phosphatidylinositide phosphatase

HGNC Alias Symbols

SAC1; KIAA0851

Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
6 papers
NM_014016.5
p.Y434F
c.1301A>T
5 papers
NM_014016.5
p.Q376R
c.1127A>G
2 papers
NM_014016.5
p.S212S
c.636G>A
2 papers
NM_014016.5
p.G543Splc
c.1627+2T>G
1 paper
NM_014016.5
p.L11Splc
c.33-38C>T
1 paper
NM_014016.5
p.V125I
c.373G>A
1 paper
NM_014016.5
p.R145Q
c.434G>A
1 paper
NM_014016.5
p.H171Y
c.511C>T
1 paper
NM_014016.5
p.P180P
c.540A>G
1 paper
NM_014016.5
p.H183P
c.548A>C
1 paper
NM_014016.5
p.D207H
c.619G>C
1 paper
NM_014016.5
p.N236D
c.706A>G
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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."