Varaico: Literature-Extracted Genetic Variants

CORIN

197 papers

RefSeq Summary

This gene encodes a member of the type II transmembrane serine protease class of the trypsin superfamily. Members of this family are composed of multiple structurally distinct domains. The encoded pro...

Pfam Domains

Fzaa 139–247UCSCFz domain

Ldl_recept_aaa 268–304UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 305–340UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 341–377UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 378–414UCSCLow-density lipoprotein receptor domain class A

Fzaa 418–527UCSCFz domain

Gene Aliases

HGNC Name

corin, serine peptidase

HGNC Alias Symbols

PRSC; CRN; ATC2; TMPRSS10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_006587.4

p.S472G

c.1414A>G

Surrounding Variants

1 paper

NM_006587.4

p.Y476*

c.1428T>G

1 paper

NM_006587.4

p.L466F

c.1398G>T

1 paper

NM_006587.4

p.L466F

c.1398G>C

3 papers

NM_006587.4

p.E484K

c.1450G>A

1 paper

NM_006587.4

p.E484G

c.1451A>G

1 paper

NM_006587.4

p.Q454*

c.1360C>T

4 papers

NM_006587.4

p.N501Y

c.1501A>T

1 paper

NM_006587.4

p.C502Y

c.1505G>A

1 paper

NM_006587.4

p.F508del1

c.1522_1523delGAA

1 paper

NM_006587.4

p.K517fs

c.1549_1550fs

1 paper

NM_006587.4

p.K517delFs

c.1551delT

2 papers

NM_006587.4

p.H525R

c.1574A>G