Varaico: Literature-Extracted Genetic Variants

Gene:FBRS
Variant:p.P127insFs

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.P127insFs
c.380_381insTC
Surrounding Variants
1 paper
NM_001105079.3
p.P127H
c.380C>A
1 paper
NM_001105079.3
p.E126delFs
c.376delG
2 papers
NM_001105079.3
p.E122K
c.364G>A
1 paper
NM_001105079.3
p.G121D
c.362G>A
1 paper
NM_001105079.3
p.G117fs
c.349_350fs
1 paper
NM_001105079.3
p.E115G
c.344A>G
1 paper
NM_001105079.3
p.E109V
c.326A>T
1 paper
NM_001105079.3
p.E108D
c.324A>C
1 paper
NM_001105079.3
p.E108D
c.324A>T
1 paper
NM_001105079.3
p.L149F
c.445C>T
1 paper
NM_001105079.3
p.G101S
c.301G>A
1 paper
NM_001105079.3
p.P76T
c.226C>A
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