Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.L377P

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.L377P
c.1130T>C
Surrounding Variants
7 papers
NM_000142.5
p.L377R
c.1130T>G
1 paper
NM_000142.5
p.L377I
c.1129C>A
2 papers
NM_000142.5
p.L377L
c.1131C>T
1 paper
NM_000142.5
p.S378C
c.1132A>T
2 papers
NM_000142.5
p.S378N
c.1133G>A
4 papers
NM_000142.5
p.S378I
c.1133G>T
1 paper
NM_000142.5
p.I376N
c.1127T>A
1 paper
NM_000142.5
p.G375G
c.1125C>T
3 papers
NM_000142.5
p.Y379C
c.1136A>G
4 papers
NM_000142.5
p.G375D
c.1124G>A
1 paper
NM_000142.5
p.Y379Y
c.1137C>T
3 papers
NM_000142.5
p.G375S
c.1123G>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."