Varaico: Literature-Extracted Genetic Variants

SERPINB7

131 papers

RefSeq Summary

This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar ...

Pfam Domains

Serpinaa 6–380UCSCSerpin (serine protease inhibitor)

Gene Aliases

HGNC Name

serpin family B member 7

HGNC Previous Names

serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7; serpin peptidase inhibitor, clade B (ovalbumin), member 7

Papers

RefSeq ID

Protein change

DNA change

1–12 of 120 variants

71 papers

NM_003784.4

p.R266*

c.796C>T

26 papers

NM_003784.4

p.A174insFs

c.522dupT

18 papers

NM_003784.4

p.G152V

c.455G>T

17 papers

NM_003784.4

p.S217_V218delFs

c.650_653del4

17 papers

NM_003784.4

p.C379Y

c.1136G>A

14 papers

NM_003784.4

p.G152Splc

c.455-1G>A

13 papers

NM_003784.4

p.K112_D113Splc

c.336+2T>G

12 papers

NM_003784.4

p.V175fs

c.523_524fs

12 papers

NM_003784.4

p.P277L

c.830C>T

10 papers

NM_003784.4

p.Q73Fs

c.218_219delinsTAAACTTTACCTFs

9 papers

NM_003784.4

p.R128*

c.382C>T

9 papers

NM_003784.4

p.G152V

c.455G>T