Varaico: Literature-Extracted Genetic Variants

SORCS2

85 papers

RefSeq Summary

This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 pro...

Pfam Domains

Sortilin-Vps10aa 179–611UCSCSortilin, neurotensin receptor 3,

Sortilin_Caa 613–775UCSCSortilin, neurotensin receptor 3, C-terminal

PKDaa 782–869UCSCPKD domain

Gene Aliases

HGNC Name

sortilin related VPS10 domain containing receptor 2

HGNC Alias Symbol

KIAA1329

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020777.3

p.C708C

c.2124C>T

Surrounding Variants

1 paper

NM_020777.3

p.R714C

c.2140C>T

2 papers

NM_020777.3

p.S716P

c.2146T>C

1 paper

NM_020777.3

p.L742L

c.2226G>A

1 paper

NM_020777.3

p.S704T

c.2110T>A

1 paper

NM_020777.3

p.D703Y

c.2107G>T

2 papers

NM_020777.3

p.R702Q

c.2105G>A

1 paper

NM_020777.3

p.R702W

c.2104C>T

2 papers

NM_020777.3

p.E700K

c.2098G>A

1 paper

NM_020777.3

p.V698M

c.2092G>A

1 paper

NM_020777.3

p.T691M

c.2072C>T

1 paper

NM_020777.3

p.T681M

c.2042C>T

1 paper

NM_020777.3

p.R676W

c.2026C>T