Varaico: Literature-Extracted Genetic Variants

Gene:FLT4
Variant:p.P500S

FLT4

789 papers

RefSeq Summary

This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. M...

Pfam Domains

VEGFR1-3_N_Ig-likeaa 28–142UCSCVEGFR1-3, N-terminal Ig-like domain
Ig_2aa 137–224UCSCImmunoglobulin domain
VEGFR-1-like_Ig-likeaa 143–224UCSCVascular endothelial growth factor receptor 1-like, Ig-like domain
Ig_3aa 231–314UCSCImmunoglobulin domain
Ig_VEGFR-1-like_5thaa 419–553UCSCVEGFR-1-like, immunoglobulin-like domain
I-setaa 678–765UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

fms related receptor tyrosine kinase 4

HGNC Alias Symbols

VEGFR3; PCL; VEGFR-3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_182925.5
p.P500S
c.1498C>T
Surrounding Variants
1 paper
NM_182925.5
p.P500A
c.1498C>G
1 paper
NM_182925.5
p.E502*
c.1504G>T
5 papers
NM_182925.5
p.E502K
c.1504G>A
1 paper
NM_182925.5
p.V498M
c.1492G>A
1 paper
NM_182925.5
p.T493_I501del9
c.1477_1502del27
2 papers
NM_182925.5
p.A497V
c.1490C>T
1 paper
NM_182925.5
p.S503delFs
c.1507_1508delCT
1 paper
NM_182925.5
p.T494M
c.1481C>T
20 papers
NM_182925.5
p.T494A
c.1480A>G
2 papers
NM_182925.5
p.W507*
c.1520G>A
2 papers
NM_182925.5
p.W507*
c.1521G>A
1 paper
NM_182925.5
p.V492M
c.1474G>A
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