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.C97Y

c.290G>A

Surrounding Variants

1 paper

NM_007373.4

p.E100K

c.298G>A

1 paper

NM_007373.4

p.E93*

c.277G>T

2 papers

NM_007373.4

p.V90L

c.268G>C

2 papers

NM_007373.4

p.E89D

c.267G>C

2 papers

NM_007373.4

p.E89D

c.267G>T

2 papers

NM_007373.4

p.I112T

c.335T>C

1 paper

NM_007373.4

p.R82G

c.244A>G

1 paper

NM_007373.4

p.I112M

c.336A>G

1 paper

NM_007373.4

p.T81A

c.241A>G

1 paper

NM_007373.4

p.I114L

c.340A>C

1 paper

NM_007373.4

p.I114L

c.340A>T

1 paper

NM_007373.4

p.P79A

c.235C>G