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

Selected Variant

17 papers

NM_003784.4

p.C379Y

c.1136G>A

Surrounding Variants

1 paper

NM_003784.4

p.C379F

c.1136G>T

1 paper

NM_003784.4

p.F361S

c.1082T>C

1 paper

NM_003784.4

p.P360_F363del4

c.1078_1088del12

1 paper

NM_003784.4

p.E346E

c.1038A>G

2 papers

NM_003784.4

p.E346*

c.1036G>T

1 paper

NM_003784.4

p.E335K

c.1003G>A

2 papers

NM_003784.4

p.T334I

c.1001C>T

1 paper

NM_003784.4

p.E331A

c.992A>C

2 papers

NM_003784.4

p.K324delFs

c.970_971delAA

1 paper

NM_003784.4

p.M321I

c.963G>A

1 paper

NM_003784.4

p.M321I

c.963G>C

1 paper

NM_003784.4

p.M321I

c.963G>T