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

1–12 of 293 variants

14 papers

NM_003036.4

p.L32V

c.94C>G

12 papers

NM_003036.4

p.P35S

c.103C>T

10 papers

NM_003036.4

p.L21R

c.62T>G

10 papers

NM_003036.4

p.G34C

c.100G>T

10 papers

NM_003036.4

p.G34D

c.101G>A

8 papers

NM_003036.4

p.S31L

c.92C>T

8 papers

NM_003036.4

p.G34S

c.100G>A

8 papers

NM_003036.4

p.G34V

c.101G>T

8 papers

NM_003036.4

p.G116E

c.347G>A

8 papers

NM_003036.4

p.A388V

c.1163C>T

7 papers

NM_003036.4

p.L32P

c.95T>C

7 papers

NM_003036.4

p.P35Q

c.104C>A