Varaico: Literature-Extracted Genetic Variants

SFTPD

126 papers

RefSeq Summary

The protein encoded by this gene is part of the innate immune response, protecting the lungs against inhaled microorganisms and chemicals. The encoded protein may also be involved in surfactant metabo...

Pfam Domains

Collagenaa 42–107UCSCCollagen triple helix repeat (20 copies)

Collagenaa 163–224UCSCCollagen triple helix repeat (20 copies)

Surfac_D-trimeraa 224–269UCSCLung surfactant protein D coiled-coil trimerisation

Lectin_Caa 271–375UCSCLectin C-type domain

Gene Aliases

HGNC Name

surfactant protein D

HGNC Previous Symbol

SFTP4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003019.5

p.P111L

c.332C>T

Surrounding Variants

1 paper

NM_003019.5

p.G109E

c.326G>A

1 paper

NM_003019.5

p.P107S

c.319C>T

6 papers

NM_003019.5

p.L123V

c.367C>G

1 paper

NM_003019.5

p.K134E

c.400A>G

2 papers

NM_003019.5

p.G103E

c.308G>A

1 paper

NM_003019.5

p.P98L

c.293C>T

1 paper

NM_003019.5

p.G91C

c.271G>T

1 paper

NM_003019.5

p.G85E

c.254G>A

1 paper

NM_003019.5

p.Q80*

c.238C>T

1 paper

NM_003019.5

p.G79R

c.235G>A

1 paper

NM_003019.5

p.G76W

c.226G>T

1 paper

NM_003019.5

p.G76R

c.226G>A