Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.S400fs

FGFR3

3,257 papers

RefSeq Summary

This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members ...

Pfam Domains

I-setaa 159–245UCSCImmunoglobulin I-set domain
Ig_3aa 252–343UCSCImmunoglobulin domain
FGFR3_TMaa 372–397UCSCFibroblast growth factor receptor 3 transmembrane domain
PK_Tyr_Ser-Thraa 472–748UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

fibroblast growth factor receptor 3

HGNC Previous Symbol

ACH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_000142.5
p.S400fs
c.1198_1199fs
Surrounding Variants
3 papers
NM_000142.5
p.S400R
c.1198A>C
2 papers
NM_000142.5
p.S400N
c.1199G>A
1 paper
NM_000142.5
p.S400T
c.1199G>C
6 papers
NM_000142.5
p.P402delFs
c.1206delC
3 papers
NM_000142.5
p.S400R
c.1200C>A
4 papers
NM_000142.5
p.S400R
c.1200C>G
10 papers
NM_000142.5
p.R399H
c.1196G>A
1 paper
NM_000142.5
p.P401T
c.1201C>A
16 papers
NM_000142.5
p.R399C
c.1195C>T
4 papers
NM_000142.5
p.P401S
c.1201C>T
NM_001163213.2
p.P403S
c.1207C>T
2 papers
NM_000142.5
p.P401L
c.1202C>T
NM_001163213.2
p.P403L
c.1208C>T
1 paper
NM_000142.5
p.L398L
c.1194G>A
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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."