Varaico: Literature-Extracted Genetic Variants

Gene:RSPRY1
Variant:p.R200S

RSPRY1

28 papers

RefSeq Summary

This gene encodes a glycoprotein that contains a RING-type zinc finger domain and an SPRY domain of unknown function. Alternative splicing of this gene results in multiple transcript variants. [provid...

Pfam Domains

SPRYaa 360–481UCSCSPRY domain
zf-C3HC4_3aa 523–568UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

ring finger and SPRY domain containing 1

HGNC Alias Symbol

KIAA1972

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_133368.3
p.R200S
c.600G>T
Surrounding Variants
1 paper
NM_133368.3
p.R200S
c.600G>C
1 paper
NM_133368.3
p.E211K
c.631G>A
1 paper
NM_133368.3
p.K235del1
c.703_704delAAG
1 paper
NM_133368.3
p.M243V
c.727A>G
1 paper
NM_133368.3
p.K172_D173Splc
c.516+2T>A
1 paper
NM_133368.3
p.K172_D173Splc
c.516+2T>C
1 paper
NM_133368.3
p.R287C
c.859C>T
3 papers
NM_133368.3
p.I126fs
c.376_377fs
3 papers
NM_133368.3
p.I126delFs
c.377delT
1 paper
NM_133368.3
p.I126fs
c.376_377fs
1 paper
NM_133368.3
p.E120*
c.358G>T
1 paper
NM_133368.3
p.N117Splc
c.351-140G>A
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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."