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

4 papers

NM_003036.4

p.L248V

c.742C>G

Surrounding Variants

2 papers

NM_003036.4

p.L248R

c.743T>G

1 paper

NM_003036.4

p.Q246*

c.736C>T

1 paper

NM_003036.4

p.Y254H

c.760T>C

1 paper

NM_003036.4

p.Y254Y

c.762C>T

1 paper

NM_003036.4

p.S241delFs

c.721delA

1 paper

NM_003036.4

p.P256_H262delFs

c.767_786del20

1 paper

NM_003036.4

p.E235V

c.704A>T

1 paper

NM_003036.4

p.K265R

c.794A>G

1 paper

NM_003036.4

p.A266T

c.796G>A

1 paper

NM_003036.4

p.K229K

c.687G>A

2 papers

NM_003036.4

p.K229N

c.687G>C

2 papers

NM_003036.4

p.K229N

c.687G>T