Varaico: Literature-Extracted Genetic Variants

Gene:FBRS
Variant:p.L398P

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
1 paper
NM_001105079.3
p.L398P
c.1193T>C
Surrounding Variants
1 paper
NM_001105079.3
p.T395T
c.1185G>A
1 paper
NM_001105079.3
p.P394fs
c.1180_1181fs
1 paper
NM_001105079.3
p.P394delFs
c.1181delC
1 paper
NM_001105079.3
p.P408T
c.1222C>A
1 paper
NM_001105079.3
p.R413fs
c.1237_1238fs
2 papers
NM_001105079.3
p.P414insFs
c.1240dupC
1 paper
NM_001105079.3
p.R413_P414insFs
c.1239_1240insCC
1 paper
NM_001105079.3
p.P416fs
c.1246_1247fs
2 papers
NM_001105079.3
p.P417fs
c.1249_1250fs
1 paper
NM_001105079.3
p.S378_S379delFs
c.1134_1137del4
1 paper
NM_001105079.3
p.H419P
c.1256A>C
1 paper
NM_001105079.3
p.S376del1
c.1126_1128delTCC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."