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.C144G

c.430T>G

Surrounding Variants

2 papers

NM_007373.4

p.L145V

c.433T>G

1 paper

NM_007373.4

p.V146A

c.437T>C

1 paper

NM_007373.4

p.M149T

c.446T>C

1 paper

NM_007373.4

p.A152V

c.455C>T

1 paper

NM_007373.4

p.L153V

c.457C>G

1 paper

NM_007373.4

p.L153L

c.457C>T

1 paper

NM_007373.4

p.E155A

c.464A>C

1 paper

NM_007373.4

p.L128fs

c.382_383fs

1 paper

NM_007373.4

p.L128delFs

c.383delT

1 paper

NM_007373.4

p.L125F

c.375A>C

1 paper

NM_007373.4

p.L125F

c.375A>T

1 paper

NM_007373.4

p.T126del1

c.376_377delACA