Varaico: Literature-Extracted Genetic Variants

Gene:FSD1
Variant:p.R204Q

FSD1

44 papers

RefSeq Summary

This gene encodes a centrosome associated protein that is characterized by an N-terminal coiled-coil region downstream of B-box (BBC) domain, a central fibronectin type III domain, and a C-terminal re...

Pfam Domains

fn3aa 167–264UCSCFibronectin type III domain
SPRYaa 355–473UCSCSPRY domain

Gene Aliases

HGNC Name

fibronectin type III and SPRY domain containing 1

HGNC Alias Symbol

MGC3213

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024333.3
p.R204Q
c.611G>A
Surrounding Variants
1 paper
NM_024333.3
p.R203Q
c.608G>A
3 papers
NM_024333.3
p.P210L
c.629C>T
1 paper
NM_024333.3
p.R226W
c.676C>T
2 papers
NM_024333.3
p.L232V
c.694C>G
1 paper
NM_024333.3
p.P165A
c.493C>G
1 paper
NM_024333.3
p.V164Splc
c.490+18T>C
1 paper
NM_024333.3
p.M142I
c.426G>A
1 paper
NM_024333.3
p.M142I
c.426G>C
1 paper
NM_024333.3
p.M142I
c.426G>T
1 paper
NM_024333.3
p.D140N
c.418G>A
1 paper
NM_024333.3
p.L132_L134del0
c.396_401del6
1 paper
NM_024333.3
p.L132_L134del3
c.394_401del9
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