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

4 papers

NM_003036.4

p.H396P

c.1187A>C

Surrounding Variants

3 papers

NM_003036.4

p.H396R

c.1187A>G

1 paper

NM_003036.4

p.L397F

c.1189C>T

1 paper

NM_003036.4

p.S389S

c.1167T>C

2 papers

NM_003036.4

p.E390delFs

c.1168delG

8 papers

NM_003036.4

p.A388V

c.1163C>T

3 papers

NM_003036.4

p.S404Splc

c.1211+2T>G

1 paper

NM_003036.4

p.A385T

c.1153G>A

1 paper

NM_003036.4

p.R380R

c.1140A>G

5 papers

NM_003036.4

p.R380*

c.1138C>T

1 paper

NM_003036.4

p.R375H

c.1124G>A

1 paper

NM_003036.4

p.Q374*

c.1120C>T

1 paper

NM_003036.4

p.R373C

c.1117C>T