Varaico: Literature-Extracted Genetic Variants

Gene:FLT4
Variant:p.R1354H

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
8 papers
NM_182925.5
p.R1354H
c.4061G>A
Surrounding Variants
1 paper
NM_182925.5
p.R1354R
c.4062C>T
3 papers
NM_182925.5
p.V1355M
c.4063G>A
1 paper
NM_182925.5
p.F1357L
c.4069T>C
1 paper
NM_182925.5
p.F1357L
c.4071C>G
1 paper
NM_182925.5
p.F1357L
c.4071C>A
1 paper
NM_182925.5
p.H1348Y
c.4042C>T
1 paper
NM_182925.5
p.D1347_H1348delins
c.4041_4042delinsTT
1 paper
NM_182925.5
p.N1361H
c.4081A>C
1 paper
NM_182925.5
p.Y1363F
c.4088A>T
1 paper
NM_182925.5
p.E1345*
c.4033G>T
1 paper
NM_182925.5
p.E1345K
c.4033G>A
1 paper
NM_182925.5
p.P1343Q
c.4028C>A
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