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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SACM1L

Variant:p.S212S

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr3:45719558 G>A

NM_014016.5

p.S212S

c.636G>A

Syja_N

Exome: 0.0% (AC=12, hom=0)Genome: n/a61 overlapping SVs

Surrounding Variants

1 paper

chr3:45719541 G>C

NM_014016.5

p.D207H

c.619G>C

Syja_N

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=8, hom=0)61 overlapping SVs

1 paper

chr3:45722026 A>G

NM_014016.5

p.N236D

c.706A>G

Syja_N

exact variant not in gnomAD61 overlapping SVs

1 paper

chr3:45722876 G>A

NM_014016.5

p.G258E

c.773G>A

Syja_N

exact variant not in gnomAD61 overlapping SVs

1 paper

chr3:45722935 A>G

NM_014016.5

p.I278V

c.832A>G

Syja_N

Exome: 0.0% (AC=1, hom=0)Genome: n/a61 overlapping SVs

1 paper

chr3:45714050 A>C

NM_014016.5

p.H183P

c.548A>C

Syja_N

exact variant not in gnomAD61 overlapping SVs

1 paper

chr3:45713193 A>G

NM_014016.5

p.P180P

c.540A>G

Syja_N

Exome: 12.9% (AC=187298, hom=12478)Genome: 14.4% (AC=21919, hom=1707)61 overlapping SVs

1 paper

chr3:45713164 C>T

NM_014016.5

p.H171Y

c.511C>T

Syja_N

Exome: 0.0% (AC=1, hom=0)Genome: n/a61 overlapping SVs

1 paper

chr3:45709598 G>A

NM_014016.5

p.R145Q

c.434G>A

Syja_N

Exome: 0.0% (AC=25, hom=0)Genome: 0.0% (AC=1, hom=0)62 overlapping SVs

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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."