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.K170R

c.509A>G

Surrounding Variants

1 paper

NM_007373.4

p.L171insFs

c.512_513insGC

2 papers

NM_007373.4

p.R172W

c.514C>T

2 papers

NM_007373.4

p.R172Q

c.515G>A

1 paper

NM_007373.4

p.M173L

c.517A>C

4 papers

NM_007373.4

p.M173V

c.517A>G

1 paper

NM_007373.4

p.M173L

c.517A>T

1 paper

NM_007373.4

p.M173K

c.518T>A

1 paper

NM_007373.4

p.M173T

c.518T>C

1 paper

NM_007373.4

p.M173R

c.518T>G

24 papers

NM_007373.4

p.M173I

c.519G>A

23 papers

NM_007373.4

p.M173I

c.519G>C

23 papers

NM_007373.4

p.M173I

c.519G>T