Varaico: Literature-Extracted Genetic Variants

Gene:SPATA7

SPATA7

222 papers

RefSeq Summary

This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced ...

Pfam Domains

HSD3aa 9–422UCSCSpermatogenesis-associated protein 7, or HSD3

Gene Aliases

HGNC Name

spermatogenesis associated 7

HGNC Previous Symbol

LCA3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 337 variants
16 papers
NM_018418.5
p.V7_R8delFs
c.20_23del4
16 papers
NM_018418.5
p.R395*
c.1183C>T
15 papers
NM_018418.5
p.R85*
c.253C>T
12 papers
NM_018418.5
p.C96*
c.288T>A
12 papers
NM_018418.5
p.R108*
c.322C>T
9 papers
NM_018418.5
p.L368delFs
c.1102_1103delCT
7 papers
NM_018418.5
p.M1I
c.3G>A
7 papers
NM_018418.5
p.L368fs
c.1102_1103fs
6 papers
NM_018418.5
p.C20_K23del4
c.58_68del12
6 papers
NM_018418.5
p.V74M
c.220G>A
6 papers
NM_018418.5
p.I371T
c.1112T>C
5 papers
NM_018418.5
p.M1I
c.3G>C
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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."