Varaico: Literature-Extracted Genetic Variants

Gene:FGF13
Variant:p.H193L

FGF13

47 papers

RefSeq Summary

The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of bio...

Pfam Domains

FGFaa 69–195UCSCFibroblast growth factor

Gene Aliases

HGNC Name

fibroblast growth factor 13

HGNC Previous Symbol

LINC00889

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004114.5
p.H193L
c.578A>T
Surrounding Variants
1 paper
NM_004114.5
p.P190fs
c.568_569fs
1 paper
NM_004114.5
p.K197Q
c.589A>C
1 paper
NM_004114.5
p.H184L
c.551A>T
1 paper
NM_004114.5
p.N183H
c.547A>C
1 paper
NM_004114.5
p.E176Q
c.526G>C
1 paper
NM_004114.5
p.W169*
c.507G>A
1 paper
NM_004114.5
p.W169*
c.506G>A
1 paper
NM_004114.5
p.Y155*
c.465T>A
1 paper
NM_004114.5
p.Y152*
c.456T>G
1 paper
NM_004114.5
p.Y152*
c.456T>A
1 paper
NM_004114.5
p.V147E
c.440T>A
1 paper
NM_004114.5
p.E140Q
c.418G>C
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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."