Varaico: Literature-Extracted Genetic Variants

Gene:FSD2
Variant:p.C608R

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.C608R
c.1822T>C
Surrounding Variants
1 paper
NM_001007122.4
p.C608Y
c.1823G>A
1 paper
NM_001007122.4
p.R619*
c.1855C>T
1 paper
NM_001007122.4
p.R619Q
c.1856G>A
1 paper
NM_001007122.4
p.R635K
c.1904G>A
1 paper
NM_001007122.4
p.G637S
c.1909G>A
1 paper
NM_001007122.4
p.G637A
c.1910G>C
1 paper
NM_001007122.4
p.A651S
c.1951G>T
1 paper
NM_001007122.4
p.F702F
c.2106T>C
1 paper
NM_001007122.4
p.H719H
c.2157C>T
1 paper
NM_001007122.4
p.E720K
c.2158G>A
1 paper
NM_001007122.4
p.D602N
c.1804G>A
1 paper
NM_001007122.4
p.R591K
c.1772G>A
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