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

2 papers

NM_003036.4

p.T180R

c.539C>G

Surrounding Variants

4 papers

NM_003036.4

p.T180K

c.539C>A

5 papers

NM_003036.4

p.T180M

c.539C>T

1 paper

NM_003036.4

p.E183K

c.547G>A

1 paper

NM_003036.4

p.L176L

c.528C>T

1 paper

NM_003036.4

p.L176F

c.526C>T

1 paper

NM_003036.4

p.A171T

c.511G>A

1 paper

NM_003036.4

p.P196Q

c.587C>A

1 paper

NM_003036.4

p.P198S

c.592C>T

1 paper

NM_003036.4

p.P198H

c.593C>A

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.A155G

c.464C>G