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.A66_T68delins

c.196_204delinsACTGCCGCG

Surrounding Variants

1 paper

NM_003036.4

p.P65H

c.194C>A

1 paper

NM_003036.4

p.P65L

c.194C>T

1 paper

NM_003036.4

p.P65S

c.193C>T

1 paper

NM_003036.4

p.A67D

c.200C>A

1 paper

NM_003036.4

p.A67V

c.200C>T

1 paper

NM_003036.4

p.P63delFs

c.189delG

4 papers

NM_003036.4

p.A62G

c.185C>G

1 paper

NM_003036.4

p.P71P

c.213G>A

1 paper

NM_003036.4

p.A59T

c.175G>A

1 paper

NM_003036.4

p.A59delins

c.175_177delinsACA

1 paper

NM_003036.4

p.H75R

c.224A>G

1 paper

NM_003036.4

p.A55P

c.163G>C