Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA1
Variant:p.Y186C

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.Y186C
c.557A>G
Surrounding Variants
1 paper
NM_005411.5
p.Y186S
c.557A>C
1 paper
NM_005411.5
p.Y186H
c.556T>C
1 paper
NM_001093770.3
p.V202A
c.605T>C
1 paper
NM_005411.5
p.K180E
c.538A>G
1 paper
NM_005411.5
p.P193S
c.577C>T
5 papers
NM_005411.5
p.V178M
c.532G>A
1 paper
NM_005411.5
p.A175_S176del2
c.523_527del6
6 papers
NM_005411.5
p.F198S
c.593T>C
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.N171I
c.512A>T
1 paper
NM_005411.5
p.N171Y
c.511A>T
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