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.K255N

c.765G>T

Surrounding Variants

1 paper

NM_007373.4

p.K255N

c.765G>C

1 paper

NM_007373.4

p.E256G

c.767A>G

1 paper

NM_007373.4

p.C260delFs

c.779_780delGT

1 paper

NM_007373.4

p.C260fs

c.778_779fs

3 papers

NM_007373.4

p.C260Y

c.779G>A

1 paper

NM_007373.4

p.Q262R

c.785A>G

2 papers

NM_007373.4

p.Q249K

c.745C>A

1 paper

NM_007373.4

p.A246P

c.736G>C

1 paper

NM_007373.4

p.V245V

c.735A>T

1 paper

NM_007373.4

p.Q269K

c.805C>A

5 papers

NM_007373.4

p.Q269R

c.806A>G

3 papers

NM_007373.4

p.Q269H

c.807G>C