Varaico: Literature-Extracted Genetic Variants

Gene:ROPN1L
Variant:p.Y45*

ROPN1L

154 papers

RefSeq Summary

This gene encodes a member of the ropporin family. The encoded protein is present in sperm and interacts with A-kinase anchoring protein, AKAP3, through the amphipathic helix region of AKAP3. Alternat...

Gene Aliases

HGNC Name

rhophilin associated tail protein 1 like

HGNC Previous Symbol

LINC01513

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_031916.5
p.Y45*
c.135T>A
Surrounding Variants
7 papers
NM_031916.5
p.Y45*
c.135T>G
1 paper
NM_031916.5
p.L49L
c.147G>A
1 paper
NM_031916.5
p.D53A
c.158A>C
1 paper
NM_031916.5
p.L55P
c.164T>C
1 paper
NM_031916.5
p.D59N
c.175G>A
1 paper
NM_031916.5
p.T65_T67insFs
c.193_200dup8
1 paper
NM_031916.5
p.T65T
c.195G>A
1 paper
NM_031916.5
p.T67I
c.200C>T
1 paper
NM_031916.5
p.Q68_K69insT
c.202_206ins3
1 paper
NM_031916.5
p.C86Y
c.257G>A
1 paper
NM_031916.5
p.H87R
c.260A>G
1 paper
NM_031916.5
p.H87H
c.261C>T
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