Varaico: Literature-Extracted Genetic Variants

Gene:FBRS
Variant:p.P321P

FBRS

156 papers

RefSeq Summary

Fibrosin is a lymphokine secreted by activated lymphocytes that induces fibroblast proliferation (Prakash and Robbins, 1998 [PubMed 9809749]).[supplied by OMIM, Mar 2008].

Pfam Domains

Auts2aa 609–802UCSCAutism susceptibility gene 2 protein

Gene Aliases

HGNC Name

fibrosin

HGNC Previous Symbol

FBS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001105079.3
p.P321P
c.963A>T
Surrounding Variants
1 paper
NM_001105079.3
p.L320_P321insFs
c.960_961insT
1 paper
NM_001105079.3
p.L320insFs
c.959_960insTG
1 paper
NM_001105079.3
p.L320V
c.958C>G
1 paper
NM_001105079.3
p.P324del1
c.970_972delCCC
1 paper
NM_001105079.3
p.P313_L314insA
c.937_941ins3
1 paper
NM_001105079.3
p.P334L
c.1001C>T
1 paper
NM_001105079.3
p.R338H
c.1013G>A
1 paper
NM_001105079.3
p.P302S
c.904C>T
1 paper
NM_001105079.3
p.P301L
c.902C>T
1 paper
NM_001105079.3
p.P301S
c.901C>T
1 paper
NM_001105079.3
p.G343D
c.1028G>A
1 paper
NM_001105079.3
p.P298fs
c.892_893fs
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