Varaico: Literature-Extracted Genetic Variants

Gene:RSPRY1
Variant:p.T427fs

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
2 papers
NM_133368.3
p.T427fs
c.1279_1280fs
Surrounding Variants
2 papers
NM_133368.3
p.T427insFs
c.1279dupA
1 paper
NM_133368.3
p.G425E
c.1274G>A
1 paper
NM_133368.3
p.I506_I507ins1
c.1518_1519insCAG
1 paper
NM_133368.3
p.G425E
c.1274G>A
1 paper
NM_133368.3
p.Q406K
c.1216C>A
1 paper
NM_133368.3
p.H387_E388Splc
c.1162-1G>A
1 paper
NM_133368.3
p.A515S
c.1543G>T
1 paper
NM_133368.3
p.R523L
c.1568G>T
1 paper
NM_133368.3
p.S545G
c.1633A>G
1 paper
NM_133368.3
p.S545Splc
c.1634+1G>T
1 paper
NM_133368.3
p.C551Y
c.1652G>A
1 paper
NM_133368.3
p.S334L
c.1001C>T
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