Varaico: Literature-Extracted Genetic Variants

Gene:FLT1
Variant:p.S318L

FLT1

774 papers

RefSeq Summary

This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding re...

Pfam Domains

VEGFR1-3_N_Ig-likeaa 30–138UCSCVEGFR1-3, N-terminal Ig-like domain
VEGFR-1-like_Ig-likeaa 143–224UCSCVascular endothelial growth factor receptor 1-like, Ig-like domain
igaa 238–324UCSCImmunoglobulin domain
I-setaa 337–426UCSCImmunoglobulin I-set domain
Ig_VEGFR-1-like_5thaa 425–554UCSCVEGFR-1-like, immunoglobulin-like domain
Ig_3aa 560–640UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

fms related receptor tyrosine kinase 1

HGNC Alias Symbol

VEGFR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002019.4
p.S318L
c.953C>T
Surrounding Variants
1 paper
NM_002019.4
p.S318A
c.952T>G
1 paper
NM_002019.4
p.V313_P317del5
c.937_950del15
1 paper
NM_002019.4
p.F319L
c.955T>C
1 paper
NM_002019.4
p.F319L
c.957C>G
1 paper
NM_002019.4
p.F319L
c.957C>A
2 papers
NM_002019.4
p.S321F
c.962C>T
1 paper
NM_002019.4
p.R314K
c.941G>A
1 paper
NM_002019.4
p.R312R
c.936T>C
1 paper
NM_002019.4
p.T324A
c.970A>G
1 paper
NM_002019.4
p.R312H
c.935G>A
1 paper
NM_002019.4
p.V326L
c.976G>T
1 paper
NM_002019.4
p.V326L
c.976G>C
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