Varaico: Literature-Extracted Genetic Variants

Gene:FLT4
Variant:p.N1042S

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
3 papers
NM_182925.5
p.N1042S
c.3125A>G
Surrounding Variants
1 paper
NM_182925.5
p.R1041L
c.3122G>T
14 papers
NM_182925.5
p.R1041P
c.3122G>C
19 papers
NM_182925.5
p.R1041Q
c.3122G>A
20 papers
NM_182925.5
p.R1041W
c.3121C>T
1 paper
NM_182925.5
p.R1041G
c.3121C>G
15 papers
NM_182925.5
p.L1044P
c.3131T>C
2 papers
NM_182925.5
p.A1040D
c.3119C>A
1 paper
NM_182925.5
p.L1045P
c.3134T>C
1 paper
NM_182925.5
p.A1039V
c.3116C>T
1 paper
NM_182925.5
p.A1039D
c.3116C>A
1 paper
NM_182925.5
p.L1038Q
c.3113T>A
2 papers
NM_182925.5
p.S1046L
c.3137C>T
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