Varaico: Literature-Extracted Genetic Variants

Gene:FSD2
Variant:p.K333T

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
4 papers
NM_001007122.4
p.K333T
c.998A>C
Surrounding Variants
1 paper
NM_001007122.4
p.G332E
c.995G>A
1 paper
NM_001007122.4
p.S344F
c.1031C>T
1 paper
NM_001007122.4
p.I366V
c.1096A>G
1 paper
NM_001007122.4
p.R391*
c.1171C>T
1 paper
NM_001007122.4
p.R410W
c.1228C>T
1 paper
NM_001007122.4
p.T419M
c.1256C>T
1 paper
NM_001007122.4
p.E245_E246Splc
c.735+3A>G
1 paper
NM_001007122.4
p.V244delFs
c.731_732delCA
1 paper
NM_001007122.4
p.V244fs
c.730_731fs
1 paper
NM_001007122.4
p.Q226H
c.678G>T
1 paper
NM_001007122.4
p.Q226H
c.678G>C
1 paper
NM_001007122.4
p.H200D
c.598C>G
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