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.S214G

c.640A>G

Surrounding Variants

1 paper

NM_003036.4

p.S214R

c.640A>C

1 paper

NM_003036.4

p.S214R

c.642C>A

1 paper

NM_003036.4

p.S214R

c.642C>G

1 paper

NM_003036.4

p.R216L

c.647G>T

1 paper

NM_003036.4

p.E202D

c.606G>C

1 paper

NM_003036.4

p.E202D

c.606G>T

1 paper

NM_003036.4

p.F225F

c.675C>T

1 paper

NM_003036.4

p.G226D

c.677G>A

2 papers

NM_003036.4

p.K227Q

c.679A>C

1 paper

NM_003036.4

p.P198H

c.593C>A

1 paper

NM_003036.4

p.K229K

c.687G>A

2 papers

NM_003036.4

p.K229N

c.687G>C