Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPANXN1

SPANXN1

5 papers

RefSeq Summary

This gene represents one of several duplicated family members that are located on chromosome X. This gene family encodes proteins that play a role in spermiogenesis. These proteins represent a specifi...

Pfam Domains

SPAN-Xaa 1–72UCSCSperm protein associated with nucleus, mapped to X chromosome

Gene Aliases

HGNC Name

SPANX family member N1

HGNC Alias Symbols

SPANX-N1; CT11.6

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chrX:145247606 G>T

NM_001009614.3

p.S7I

c.20G>T

SPAN-X

exact variant not in gnomAD29 overlapping SVs

1 paper

chrX:145247643 C>CAAT

NM_001009614.3

p.S19_N20ins1

c.57_58insAAT

SPAN-X

Exome: n/aGenome: 0.0% (AC=0, hom=0)29 overlapping SVs

1 paper

chrX:145255720 A>T

NM_001009614.3

p.K42M

c.125A>T

SPAN-X

exact variant not in gnomAD27 overlapping SVs

1 paper

chrX:145255764 A>ANNNNNNNNN

NM_001009614.3

p.R57_K58insAAT

c.169_173ins9

SPAN-X

exact variant not in gnomAD27 overlapping SVs

1 paper

chrX:145255780 T>A

NM_001009614.3

p.I62K

c.185T>A

SPAN-X

exact variant not in gnomAD27 overlapping SVs

1 paper

chrX:145255812 T>TN

NM_001009614.3

p.*73fs

c.217_218fs

exact variant not in gnomAD27 overlapping SVs

1 paper

chrX:145255812 TGA>T

NM_001009614.3

p.*73delFs

c.218_219delGA

Exome: 0.0% (AC=233, hom=0)Genome: 0.2% (AC=216, hom=0)27 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."