Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA1
Variant:p.C238S

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.C238S
c.713G>C
Surrounding Variants
1 paper
NM_005411.5
p.C238S
c.712T>A
2 papers
NM_005411.5
p.R242*
c.724C>T
3 papers
NM_005411.5
p.R242Q
c.725G>A
1 paper
NM_005411.5
p.W233C
c.699G>C
1 paper
NM_005411.5
p.W233C
c.699G>T
1 paper
NM_005411.5
p.W233L
c.698G>T
1 paper
NM_005411.5
p.W233R
c.697T>A
1 paper
NM_005411.5
p.W233R
c.697T>C
1 paper
NM_005411.5
p.G231E
c.692G>A
6 papers
NM_005411.5
p.G231V
c.692G>T
1 paper
NM_005411.5
p.G231R
c.691G>A
1 paper
NM_005411.5
p.G231R
c.691G>C
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