Varaico: Literature-Extracted Genetic Variants

SKI

303 papers

RefSeq Summary

This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development a...

Pfam Domains

Ski_Sno_DHDaa 82–191UCSCSKI/SNO/DAC Dachshund homology domain

c-SKI_SMAD_bindaa 217–311UCSCc-SKI Smad4 binding domain

Gene Aliases

HGNC Name

SKI proto-oncogene

HGNC Previous Name

v-ski avian sarcoma viral oncogene homolog

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003036.4

p.A4A

c.12G>C

Surrounding Variants

1 paper

NM_003036.4

p.A3V

c.8C>T

1 paper

NM_003036.4

p.G6S

c.16G>A

1 paper

NM_003036.4

p.G6R

c.16G>C

1 paper

NM_003036.4

p.G7S

c.19G>A

1 paper

NM_003036.4

p.G7G

c.21C>G

1 paper

NM_003036.4

p.M1Fs

c.3delinsTTTTAGATCCATFs

1 paper

NM_003036.4

p.M1delins

c.3delinsTTTTAGATCCATATTTTAG

1 paper

NM_003036.4

p.M1delFs

c.2delT

1 paper

NM_003036.4

p.R8R

c.24C>A

1 paper

NM_003036.4

p.C10R

c.28T>C

1 paper

NM_003036.4

p.C10W

c.30T>G

1 paper

NM_003036.4

p.F11L

c.31T>C