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.T98T

c.294C>T

Surrounding Variants

1 paper

NM_003036.4

p.R96G

c.286C>G

2 papers

NM_003036.4

p.S97_R100del0

c.289_300del12

1 paper

NM_003036.4

p.E102K

c.304G>A

3 papers

NM_003036.4

p.D95_S97del0

c.283_291del9

5 papers

NM_003036.4

p.S94_S97del0

c.280_291del12

1 paper

NM_003036.4

p.P93L

c.278C>T

1 paper

NM_003036.4

p.P93S

c.277C>T

1 paper

NM_003036.4

p.L105P

c.314T>C

1 paper

NM_003036.4

p.F91V

c.271T>G

1 paper

NM_003036.4

p.F91delFs

c.272delT

1 paper

NM_003036.4

p.G107G

c.321C>T

1 paper

NM_003036.4

p.S111*

c.332C>A