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.Q23P

c.68A>C

Surrounding Variants

1 paper

NM_003036.4

p.Q23H

c.69G>C

1 paper

NM_003036.4

p.Q23H

c.69G>T

10 papers

NM_003036.4

p.L21R

c.62T>G

2 papers

NM_003036.4

p.T20K

c.59C>A

4 papers

NM_003036.4

p.T20R

c.59C>G

6 papers

NM_003036.4

p.S28T

c.82T>A

1 paper

NM_003036.4

p.S31P

c.91T>C

1 paper

NM_003036.4

p.S31A

c.91T>G

1 paper

NM_003036.4

p.P15Q

c.44C>A

8 papers

NM_003036.4

p.S31L

c.92C>T

14 papers

NM_003036.4

p.L32V

c.94C>G

1 paper

NM_003036.4

p.L32L

c.94C>T