Varaico: Literature-Extracted Genetic Variants

Gene:RSPRY1
Variant:p.R78Q

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.R78Q
c.233G>A
Surrounding Variants
1 paper
NM_133368.3
p.D79delFs
c.235delG
1 paper
NM_133368.3
p.R82W
c.244C>T
1 paper
NM_133368.3
p.R82Q
c.245G>A
1 paper
NM_133368.3
p.Q61L
c.182A>T
2 papers
NM_133368.3
p.G41C
c.121G>T
1 paper
NM_133368.3
p.A37fs
c.109_110fs
1 paper
NM_133368.3
p.A37S
c.109G>T
1 paper
NM_133368.3
p.A37delFs
c.109delG
1 paper
NM_133368.3
p.E24K
c.70G>A
1 paper
NM_133368.3
p.S14T
c.41G>C
1 paper
NM_133368.3
p.N117Splc
c.351-140G>A
1 paper
NM_133368.3
p.E120*
c.358G>T
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