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.V114M

c.340G>A

Surrounding Variants

1 paper

NM_003036.4

p.V114_V115insA

c.340_344ins3

4 papers

NM_003036.4

p.C112W

c.336C>G

1 paper

NM_003036.4

p.G116R

c.346G>A

1 paper

NM_003036.4

p.G116R

c.346G>C

8 papers

NM_003036.4

p.G116E

c.347G>A

1 paper

NM_003036.4

p.S111*

c.332C>A

2 papers

NM_003036.4

p.G117S

c.349G>A

7 papers

NM_003036.4

p.G117R

c.349G>C

2 papers

NM_003036.4

p.G117D

c.350G>A

1 paper

NM_003036.4

p.G117A

c.350G>C

1 paper

NM_003036.4

p.E118K

c.352G>A

1 paper

NM_003036.4

p.E118D

c.354G>C