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.L269ins1

c.806_807insGCT

Surrounding Variants

1 paper

NM_000542.5

p.R272H

c.815G>A

1 paper

NM_000542.5

p.R264C

c.790C>T

1 paper

NM_000542.5

p.L275delFs

c.825delG

1 paper

NM_000542.5

p.D259V

c.776A>T

2 papers

NM_000542.5

p.L257P

c.770T>C

1 paper

NM_000542.5

p.D281E

c.843C>G

1 paper

NM_000542.5

p.D281E

c.843C>A

1 paper

NM_000542.5

p.I256I

c.768C>T

1 paper

NM_000542.5

p.S254P

c.760T>C

1 paper

NM_000542.5

p.Y253*

c.759C>G

1 paper

NM_000542.5

p.Y253*

c.759C>A

1 paper

NM_000542.5

p.R286Splc

c.856+2T>G