Varaico: Literature-Extracted Genetic Variants

Gene:FGFR4
Variant:p.R529Q

FGFR4

981 papers

RefSeq Summary

The protein encoded by this gene is a tyrosine kinase and cell surface receptor for fibroblast growth factors. The encoded protein is involved in the regulation of several pathways, including cell pro...

Pfam Domains

I-setaa 153–241UCSCImmunoglobulin I-set domain
Ig_3aa 248–337UCSCImmunoglobulin domain
PK_Tyr_Ser-Thraa 467–743UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

fibroblast growth factor receptor 4

HGNC Alias Symbols

JTK2; CD334; TKF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_213647.3
p.R529Q
c.1586G>A
Surrounding Variants
1 paper
NM_213647.3
p.R529G
c.1585C>G
1 paper
NM_213647.3
p.R529*
c.1585C>T
1 paper
NM_213647.3
p.H530Y
c.1588C>T
1 paper
NM_213647.3
p.G528V
c.1583G>T
2 papers
NM_213647.3
p.G528S
c.1582G>A
3 papers
NM_213647.3
p.G528C
c.1582G>T
1 paper
NM_213647.3
p.L526ins7
c.1576_1577ins21
1 paper
NM_213647.3
p.I534N
c.1601T>A
1 paper
NM_213647.3
p.I534S
c.1601T>G
11 papers
NM_213647.3
p.N535D
c.1603A>G
45 papers
NM_213647.3
p.N535K
c.1605C>A
45 papers
NM_213647.3
p.N535K
c.1605C>G
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