Varaico: Literature-Extracted Genetic Variants

SPEN

881 papers

RefSeq Summary

This gene encodes a hormone inducible transcriptional repressor. Repression of transcription by this gene product can occur through interactions with other repressors, by the recruitment of proteins i...

Pfam Domains

RRM_1aa 8–75UCSCRNA recognition motif

RRM_1aa 337–407UCSCRNA recognition motif

RRM_1aa 440–507UCSCRNA recognition motif

RRM_1aa 519–583UCSCRNA recognition motif

MINT_MIDaa 2059–2389UCSCMsx2-interacting protein, MID domain

MINT_RIDaa 2400–2639UCSCMsx2-interacting protein, nuclear receptor-interacting domain

Gene Aliases

HGNC Name

spen family transcriptional repressor

HGNC Alias Symbols

KIAA0929; MINT; SHARP; RBM15C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015001.3

p.E2016*

c.6046G>T

Surrounding Variants

1 paper

NM_015001.3

p.V2017L

c.6049G>C

1 paper

NM_015001.3

p.V2017L

c.6049G>T

1 paper

NM_015001.3

p.V2017G

c.6050T>G

1 paper

NM_015001.3

p.Q2020*

c.6058C>T

1 paper

NM_015001.3

p.E2012K

c.6034G>A

1 paper

NM_015001.3

p.R2010H

c.6029G>A

4 papers

NM_015001.3

p.G2022S

c.6064G>A

1 paper

NM_015001.3

p.T2009A

c.6025A>G

4 papers

NM_015001.3

p.D2007E

c.6021T>A

3 papers

NM_015001.3

p.D2007E

c.6021T>G

1 paper

NM_015001.3

p.K2024N

c.6072A>C

1 paper

NM_015001.3

p.K2024N

c.6072A>T