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.F311I

c.931T>A

Surrounding Variants

1 paper

NM_003036.4

p.E309A

c.926A>C

1 paper

NM_003036.4

p.V307L

c.919G>T

1 paper

NM_003036.4

p.R302C

c.904C>T

1 paper

NM_003036.4

p.P322S

c.964C>T

1 paper

NM_003036.4

p.Q297L

c.890A>T

2 papers

NM_003036.4

p.E296D

c.888G>C

1 paper

NM_003036.4

p.R323_V324Splc

c.969+5G>C

1 paper

NM_003036.4

p.E296D

c.888G>T

1 paper

NM_003036.4

p.E295D

c.885G>C

1 paper

NM_003036.4

p.E295D

c.885G>T

2 papers

NM_003036.4

p.Q289_L300del12

c.865_899del36

1 paper

NM_003036.4

p.S288C

c.862A>T