Varaico: Literature-Extracted Genetic Variants

Gene:FSD2
Variant:p.R567C

FSD2

50 papers

RefSeq Summary

This gene encodes a protein that belongs to the FN3/SPRY family of proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013].

Pfam Domains

fn3aa 371–464UCSCFibronectin type III domain
SPRYaa 621–740UCSCSPRY domain

Gene Aliases

HGNC Name

fibronectin type III and SPRY domain containing 2

HGNC Previous Symbol

SPRYD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001007122.4
p.R567C
c.1699C>T
Surrounding Variants
1 paper
NM_001007122.4
p.N569Y
c.1705A>T
2 papers
NM_001007122.4
p.S580F
c.1739C>T
1 paper
NM_001007122.4
p.T585M
c.1754C>T
1 paper
NM_001007122.4
p.R591K
c.1772G>A
1 paper
NM_001007122.4
p.D602N
c.1804G>A
1 paper
NM_001007122.4
p.G563Splc
c.1688-221G>A
1 paper
NM_001007122.4
p.A557T
c.1669G>A
1 paper
NM_001007122.4
p.R536Q
c.1607G>A
1 paper
NM_001007122.4
p.E527D
c.1581G>T
1 paper
NM_001007122.4
p.E527D
c.1581G>C
1 paper
NM_001007122.4
p.C608R
c.1822T>C
1 paper
NM_001007122.4
p.C608Y
c.1823G>A
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