Varaico: Literature-Extracted Genetic Variants

Gene:FLT4
Variant:p.D1049E

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
1 paper
NM_182925.5
p.D1049E
c.3147C>A
Surrounding Variants
1 paper
NM_182925.5
p.V1050M
c.3148G>A
4 papers
NM_182925.5
p.D1049N
c.3145G>A
1 paper
NM_182925.5
p.V1051L
c.3151G>T
1 paper
NM_182925.5
p.S1048I
c.3143G>T
1 paper
NM_182925.5
p.V1051L
c.3151G>C
2 papers
NM_182925.5
p.V1051M
c.3151G>A
1 paper
NM_182925.5
p.V1051fs
c.3151_3152fs
1 paper
NM_182925.5
p.E1047G
c.3140A>G
2 papers
NM_182925.5
p.S1046L
c.3137C>T
9 papers
NM_182925.5
p.I1053F
c.3157A>T
1 paper
NM_182925.5
p.L1045P
c.3134T>C
2 papers
NM_182925.5
p.C1054S
c.3160T>A
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