Varaico: Literature-Extracted Genetic Variants

Gene:FBRS
Variant:p.L953P

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.L953P
c.2858T>C
Surrounding Variants
1 paper
NM_001105079.3
p.P959_L960insTG
c.2875_2879ins6
1 paper
NM_001105079.3
p.L960_V961insT
c.2878_2882ins3
2 papers
NM_001105079.3
p.A963T
c.2887G>A
2 papers
NM_001105079.3
p.P970_G972del3
c.2908_2915del9
1 paper
NM_001105079.3
p.*981R
c.2941T>C
1 paper
NM_001105079.3
p.L880P
c.2639T>C
1 paper
NM_001105079.3
p.R863W
c.2587C>T
1 paper
NM_001105079.3
p.A842fs
c.2524_2525fs
1 paper
NM_001105079.3
p.A841fs
c.2521_2522fs
1 paper
NM_001105079.3
p.A840_A841insFs
c.2520_2521insT
1 paper
NM_001105079.3
p.A840insFs
c.2519_2520insTG
2 papers
NM_001105079.3
p.A839_A840ins0
c.2517_2519dupTGC
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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."