Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA1

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
1–12 of 97 variants
15 papers
NM_005411.5
p.R219W
c.655C>T
6 papers
NM_005411.5
p.V19A
c.56T>C
6 papers
NM_005411.5
p.F198S
c.593T>C
6 papers
NM_005411.5
p.W211R
c.631T>A
6 papers
NM_005411.5
p.W211R
c.631T>C
6 papers
NM_005411.5
p.Q223K
c.667C>A
6 papers
NM_005411.5
p.G231V
c.692G>T
5 papers
NM_005411.5
p.L50V
c.148C>G
5 papers
NM_005411.5
p.P62P
c.186A>G
5 papers
NM_005411.5
p.I131T
c.392T>C
5 papers
NM_005411.5
p.V178M
c.532G>A
4 papers
NM_005411.5
p.P91A
c.271C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."