Varaico: Literature-Extracted Genetic Variants

Gene:SFTPA1
Variant:p.V19A

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.V19A
c.56T>C
Surrounding Variants
1 paper
NM_005411.5
p.A15V
c.44C>T
1 paper
NM_005411.5
p.A15S
c.43G>T
1 paper
NM_005411.5
p.A15delFs
c.45delC
1 paper
NM_005411.5
p.L12W
c.35T>G
1 paper
NM_005411.5
p.L10P
c.29T>C
2 papers
NM_005411.5
p.P30L
c.89C>T
1 paper
NM_005411.5
p.G31R
c.91G>C
1 paper
NM_005411.5
p.C4R
c.10T>C
1 paper
NM_005411.5
p.W2*
c.6G>A
1 paper
NM_005411.5
p.L41delFs
c.122delT
1 paper
NM_005411.5
p.P42A
c.124C>G
1 paper
NM_005411.5
p.G46R
c.136G>A
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