Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA1
Variant:p.W211R

SFTPA1

148 papers

RefSeq Summary

This gene encodes a lung surfactant protein that is a member of a subfamily of C-type lectins called collectins. The encoded protein binds specific carbohydrate moieties found on lipids and on the sur...

Pfam Domains

Lectin_Caa 144–248UCSCLectin C-type domain

Gene Aliases

HGNC Name

surfactant protein A1

HGNC Previous Symbol

SFTP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_005411.5
p.W211R
c.631T>C
Surrounding Variants
6 papers
NM_005411.5
p.W211R
c.631T>A
2 papers
NM_001093770.3
p.N225K
c.675C>A
2 papers
NM_001093770.3
p.N225K
c.675C>G
1 paper
NM_005411.5
p.T209N
c.626C>A
1 paper
NM_005411.5
p.R213*
c.637C>T
2 papers
NM_005411.5
p.Y208H
c.622T>C
1 paper
NM_005411.5
p.N207S
c.620A>G
1 paper
NM_005411.5
p.N207Y
c.619A>T
15 papers
NM_005411.5
p.R219W
c.655C>T
1 paper
NM_005411.5
p.G203R
c.607G>A
1 paper
NM_005411.5
p.G203R
c.607G>C
1 paper
NM_005411.5
p.R219L
c.656G>T
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