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.S151W

c.452C>G

Surrounding Variants

1 paper

NM_003036.4

p.R152_T154delFs

c.454_461del8

1 paper

NM_003036.4

p.R152H

c.455G>A

1 paper

NM_003036.4

p.R152R

c.456C>T

1 paper

NM_003036.4

p.A155S

c.463G>T

1 paper

NM_003036.4

p.A155G

c.464C>G

2 papers

NM_003036.4

p.H147Y

c.439C>T

1 paper

NM_003036.4

p.N140I

c.419A>T

1 paper

NM_003036.4

p.Q137*

c.409C>T

1 paper

NM_003036.4

p.D133V

c.398A>T

1 paper

NM_003036.4

p.A171T

c.511G>A

1 paper

NM_003036.4

p.L131_F134del4

c.391_401del12

1 paper

NM_003036.4

p.V130M

c.388G>A