Varaico: Literature-Extracted Genetic Variants

Gene:FSD2
Variant:p.S5L

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
2 papers
NM_001007122.4
p.S5L
c.14C>T
Surrounding Variants
1 paper
NM_001007122.4
p.S5S
c.15G>C
1 paper
NM_001007122.4
p.E7K
c.19G>A
1 paper
NM_001007122.4
p.E7V
c.20A>T
1 paper
NM_001007122.4
p.Y22*
c.66C>A
1 paper
NM_001007122.4
p.E54*
c.160G>T
1 paper
NM_001007122.4
p.D131N
c.391G>A
1 paper
NM_001007122.4
p.Q144*
c.430C>T
1 paper
NM_001007122.4
p.C163R
c.487T>C
1 paper
NM_001007122.4
p.E174del1
c.520_521delTTC
1 paper
NM_001007122.4
p.H200D
c.598C>G
1 paper
NM_001007122.4
p.Q226H
c.678G>T
1 paper
NM_001007122.4
p.Q226H
c.678G>C
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