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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SNTG2

Variant:p.I206K

SNTG2

83 papers

RefSeq Summary

This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carb...

Pfam Domains

PDZaa 73–153UCSCPDZ domain

Syntrophin_4thaa 425–522UCSCSyntrophin C-terminal PH domain

Gene Aliases

HGNC Name

syntrophin gamma 2

HGNC Alias Symbols

SYN5; G2SYN

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr2:1209128 T>A

NM_018968.4

p.I206K

c.617T>A

exact variant not in gnomAD28 overlapping SVs

Surrounding Variants

1 paper

chr2:1209122 C>T

NM_018968.4

p.S204L

c.611C>T

Exome: 0.2% (AC=3627, hom=8)Genome: 0.3% (AC=406, hom=3)28 overlapping SVs

3 papers

chr2:1209110 C>T

NM_018968.4

p.S200L

c.599C>T

Exome: 8.1% (AC=118102, hom=7849)Genome: 16.6% (AC=25313, hom=3923)28 overlapping SVs

1 paper

chr2:1209155 G>A

NM_018968.4

p.R215H

c.644G>A

Exome: 0.0% (AC=614, hom=1)Genome: 0.0% (AC=50, hom=0)28 overlapping SVs

1 paper

chr2:1209175 G>A

NM_018968.4

p.V222M

c.664G>A

Exome: 0.0% (AC=31, hom=0)Genome: 0.0% (AC=1, hom=0)28 overlapping SVs

1 paper

chr2:1209214 G>A

NM_018968.4

p.G235R

c.703G>A

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=4, hom=0)28 overlapping SVs

1 paper

chr2:1209214 G>C

NM_018968.4

p.G235R

c.703G>C

exact variant not in gnomAD28 overlapping SVs

1 paper

chr2:1209219 G>A

NM_018968.4

p.T236T

c.708G>A

Exome: 0.0% (AC=323, hom=0)Genome: 0.0% (AC=29, hom=0)28 overlapping SVs

1 paper

chr2:1209272 C>A

NM_018968.4

p.R240Splc

c.719+42C>A

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=8, hom=1)28 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."