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.C235S

c.703T>A

Surrounding Variants

3 papers

NM_000542.5

p.C235R

c.703T>C

1 paper

NM_000542.5

p.C235S

c.704G>C

16 papers

NM_000542.5

p.R236C

c.706C>T

1 paper

NM_000542.5

p.Q233*

c.697C>T

1 paper

NM_000542.5

p.V231E

c.692T>A

1 paper

NM_000542.5

p.P239P

c.717T>C

1 paper

NM_000542.5

p.A242V

c.725C>T

1 paper

NM_000542.5

p.G244_I245insC

c.730_734ins3

1 paper

NM_000542.5

p.G244S

c.730G>A

1 paper

NM_000542.5

p.C246S

c.736T>A

1 paper

NM_000542.5

p.C246S

c.737G>C

1 paper

NM_000542.5

p.C248C

c.744C>T