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.I112M

c.336A>G

Surrounding Variants

2 papers

NM_007373.4

p.I112T

c.335T>C

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.I119V

c.355A>G

1 paper

NM_007373.4

p.E121G

c.362A>G

1 paper

NM_007373.4

p.Q124R

c.371A>G

1 paper

NM_007373.4

p.E100K

c.298G>A

1 paper

NM_007373.4

p.T126del1

c.376_377delACA

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.L128fs

c.382_383fs

1 paper

NM_007373.4

p.L128delFs

c.383delT