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.M1L

c.1A>C

Surrounding Variants

2 papers

NM_007373.4

p.M1V

c.1A>G

1 paper

NM_007373.4

p.M1_S2insFs

c.3_4insA

136 papers

NM_007373.4

p.S2G

c.4A>G

1 paper

NM_007373.4

p.S4R

c.10A>C

1 paper

NM_007373.4

p.S4R

c.12T>A

1 paper

NM_007373.4

p.S4R

c.12T>G

1 paper

NM_007373.4

p.G6G

c.18A>C

2 papers

NM_007373.4

p.S11Y

c.32C>A

1 paper

NM_007373.4

p.S11C

c.32C>G

1 paper

NM_007373.4

p.P19P

c.57A>G

1 paper

NM_007373.4

p.A21G

c.62C>G

1 paper

NM_007373.4

p.R24*

c.70A>T