Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA1
Variant:p.E170K

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
1 paper
NM_005411.5
p.E170K
c.508G>A
Surrounding Variants
1 paper
NM_005411.5
p.N171Y
c.511A>T
1 paper
NM_005411.5
p.N171I
c.512A>T
2 papers
NM_005411.5
p.N171K
c.513T>A
2 papers
NM_005411.5
p.N171K
c.513T>G
1 paper
NM_005411.5
p.A175_S176del2
c.523_527del6
1 paper
NM_005411.5
p.P165S
c.493C>T
1 paper
NM_005411.5
p.A163delFs
c.489delT
5 papers
NM_005411.5
p.V178M
c.532G>A
1 paper
NM_005411.5
p.K180E
c.538A>G
1 paper
NM_005411.5
p.G160S
c.478G>A
1 paper
NM_005411.5
p.A154P
c.460G>C
1 paper
NM_005411.5
p.Y186H
c.556T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."