Varaico: Literature-Extracted Genetic Variants

Gene:SPATA7
Variant:p.R8K

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
Selected Variant
1 paper
NM_018418.5
p.R8K
c.23G>A
Surrounding Variants
5 papers
NM_018418.5
p.V7fs
c.19_20fs
16 papers
NM_018418.5
p.V7_R8delFs
c.20_23del4
1 paper
NM_018418.5
p.T10I
c.29C>T
1 paper
NM_018418.5
p.P14S
c.40C>T
1 paper
NM_018418.5
p.R15K
c.44G>A
1 paper
NM_018418.5
p.V7Splc
c.20-19T>G
1 paper
NM_018418.5
p.Y16F
c.47A>T
1 paper
NM_018418.5
p.P19L
c.56C>T
1 paper
NM_018418.5
p.P19P
c.57G>A
6 papers
NM_018418.5
p.C20_K23del4
c.58_68del12
1 paper
NM_018418.5
p.F22Y
c.65T>A
1 paper
NM_018418.5
p.K23fs
c.67_68fs
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