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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NASP

Variant:p.K20Splc

NASP

87 papers

RefSeq Summary

This gene encodes a H1 histone binding protein that is involved in transporting histones into the nucleus of dividing cells. Multiple isoforms are encoded by transcript variants of this gene. The soma...

Pfam Domains

SHNi-TPRaa 542–579UCSCSHNi-TPR

Gene Aliases

HGNC Name

nuclear autoantigenic sperm protein

HGNC Alias Symbols

FLB7527; FLJ31599; FLJ35510; MGC19722; MGC20372; MGC2297; DKFZp547F162; PRO1999

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr1:45591183 T>C

NM_002482.4

p.K20Splc

c.60-40T>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a173 overlapping SVs

Surrounding Variants

1 paper

chr1:45591256 A>T

NM_002482.4

p.A31A

c.93A>T

exact variant not in gnomAD173 overlapping SVs

1 paper

chr1:45591267 A>G

NM_002482.4

p.E35G

c.104A>G

Exome: 0.2% (AC=2989, hom=4)Genome: 0.1% (AC=213, hom=0)173 overlapping SVs

1 paper

chr1:45584267 G>T

NM_002482.4

p.K20Splc

c.59+62G>T

Exome: 0.0% (AC=328, hom=2)Genome: 0.0% (AC=58, hom=1)172 overlapping SVs

1 paper

chr1:45584193 T>C

NM_002482.4

p.V16A

c.47T>C

Exome: 0.0% (AC=0, hom=0)Genome: n/a172 overlapping SVs

1 paper

chr1:45584185 G>A

NM_002482.4

p.A13A

c.39G>A

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)172 overlapping SVs

1 paper

chr1:45584180 G>A

NM_002482.4

p.A12T

c.34G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a172 overlapping SVs

5 papers

chr1:45584177 G>C

NM_002482.4

p.V11L

c.31G>C

Exome: 0.4% (AC=5136, hom=60)Genome: 0.3% (AC=455, hom=3)172 overlapping SVs

1 paper

chr1:45584156 G>A

NM_002482.4

p.E4K

c.10G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a172 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."