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.I467N

c.1400T>A

Surrounding Variants

1 paper

NM_007373.4

p.A468V

c.1403C>T

3 papers

NM_007373.4

p.L473I

c.1417T>A

1 paper

NM_007373.4

p.E457D

c.1371G>C

1 paper

NM_007373.4

p.E457D

c.1371G>T

6 papers

NM_007373.4

p.E457K

c.1369G>A

1 paper

NM_007373.4

p.D454_L455del1

c.1362_1364delTCT

1 paper

NM_007373.4

p.H442P

c.1325A>C

1 paper

NM_007373.4

p.P441P

c.1323C>T

1 paper

NM_007373.4

p.L440insFs

c.1319dupT

3 papers

NM_007373.4

p.L437I

c.1309C>A

1 paper

NM_007373.4

p.N434T

c.1301A>C

1 paper

NM_007373.4

p.N434D

c.1300A>G