Varaico: Literature-Extracted Genetic Variants

SFTPB

174 papers

RefSeq Summary

This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-acti...

Pfam Domains

SapAaa 29–61UCSCSaposin A-type domain

SapB_1aa 67–104UCSCSaposin-like type B, region 1

SapB_2aa 110–143UCSCSaposin-like type B, region 2

SapB_2aa 333–366UCSCSaposin-like type B, region 2

Gene Aliases

HGNC Name

surfactant protein B

HGNC Previous Symbol

SFTP3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000542.5

p.L172R

c.515T>G

Surrounding Variants

1 paper

NM_000542.5

p.L172L

c.514C>T

1 paper

NM_000542.5

p.P171L

c.512C>T

1 paper

NM_000542.5

p.P171R

c.512C>G

1 paper

NM_000542.5

p.P171S

c.511C>T

1 paper

NM_000542.5

p.D170H

c.508G>C

1 paper

NM_000542.5

p.D170N

c.508G>A

1 paper

NM_000542.5

p.K175E

c.523A>G

1 paper

NM_000542.5

p.P169T

c.505C>A

1 paper

NM_000542.5

p.L168L

c.504G>A

1 paper

NM_000542.5

p.L176F

c.526C>T

3 papers

NM_000542.5

p.D166delFs

c.496delC

1 paper

NM_000542.5

p.D166fs

c.496_497fs