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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IGSF21

Variant:p.V130I

IGSF21

63 papers

RefSeq Summary

This gene encodes a protein which has two immunoglobulin (Ig) domains and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act ...

Pfam Domains

V-setaa 31–140UCSCImmunoglobulin V-set domain

Gene Aliases

HGNC Name

immunoglobin superfamily member 21

HGNC Alias Symbols

MGC15730; RP11-121A23.1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr1:18334974 G>A

NM_032880.5

p.V130I

c.388G>A

V-set

exact variant not in gnomAD69 overlapping SVs

Surrounding Variants

1 paper

chr1:18334955 C>T

NM_032880.5

p.R123R

c.369C>T

V-set

Exome: 0.0% (AC=508, hom=3)Genome: 0.0% (AC=43, hom=1)69 overlapping SVs

1 paper

chr1:18334954 G>A

NM_032880.5

p.R123H

c.368G>A

V-set

Exome: 0.0% (AC=64, hom=0)Genome: 0.0% (AC=18, hom=0)69 overlapping SVs

2 papers

chr1:18335001 A>T

NM_032880.5

p.N139Y

c.415A>T

V-set

exact variant not in gnomAD69 overlapping SVs

1 paper

chr1:18334924 C>A

NM_032880.5

p.P113H

c.338C>A

V-set

exact variant not in gnomAD69 overlapping SVs

1 paper

chr1:18334906 G>A

NM_032880.5

p.R107Q

c.320G>A

V-set

Exome: 0.0% (AC=52, hom=0)Genome: 0.0% (AC=13, hom=0)69 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."