Varaico: Literature-Extracted Genetic Variants

SHOC2

308 papers

RefSeq Summary

This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream...

Pfam Domains

LRR_8aa 123–181UCSCLeucine rich repeat

LRR_14aa 205–387UCSCLeucine-rich repeat region

LRR_14aa 442–550UCSCLeucine-rich repeat region

Gene Aliases

HGNC Name

SHOC2 leucine rich repeat scaffold protein

HGNC Alias Symbols

KIAA0862; SOC2; SUR-8; SOC-2; SUR8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007373.4

p.P418fs

c.1252_1253fs

Surrounding Variants

1 paper

NM_007373.4

p.D420V

c.1259A>T

2 papers

NM_007373.4

p.Q413K

c.1237C>A

1 paper

NM_007373.4

p.T411S

c.1232C>G

5 papers

NM_007373.4

p.T411A

c.1231A>G

1 paper

NM_007373.4

p.T411S

c.1231A>T

2 papers

NM_007373.4

p.V425I

c.1273G>A

1 paper

NM_007373.4

p.T402I

c.1205C>T

1 paper

NM_007373.4

p.D397fs

c.1189_1190fs

1 paper

NM_007373.4

p.Q390delFs

c.1168_1169delCA

1 paper

NM_007373.4

p.N434D

c.1300A>G

1 paper

NM_007373.4

p.N434T

c.1301A>C

3 papers

NM_007373.4

p.L437I

c.1309C>A