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.A43V

c.128C>T

Surrounding Variants

1 paper

NM_003036.4

p.Q44_E45delFs

c.131_134del4

1 paper

NM_003036.4

p.A46A

c.138C>T

1 paper

NM_003036.4

p.S39L

c.116C>T

1 paper

NM_003036.4

p.Y47Y

c.141C>T

1 paper

NM_003036.4

p.F38_S39insFs

c.114_115insA

1 paper

NM_003036.4

p.A36V

c.107C>T

7 papers

NM_003036.4

p.P35Q

c.104C>A

1 paper

NM_003036.4

p.P35R

c.104C>G

12 papers

NM_003036.4

p.P35S

c.103C>T

1 paper

NM_003036.4

p.A52S

c.154G>T

10 papers

NM_003036.4

p.G34D

c.101G>A

5 papers

NM_003036.4

p.G34A

c.101G>C