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.Q665*

c.1993C>T

Surrounding Variants

1 paper

NM_015001.3

p.G666del1

c.1996_1998delGGA

1 paper

NM_015001.3

p.D667N

c.1999G>A

1 paper

NM_015001.3

p.D667H

c.1999G>C

1 paper

NM_015001.3

p.Y668_Y669ins6

c.2002_2006ins18

2 papers

NM_015001.3

p.W661*

c.1983G>A

1 paper

NM_015001.3

p.Y668*

c.2004C>A

1 paper

NM_015001.3

p.Y668*

c.2004C>G

1 paper

NM_015001.3

p.W661*

c.1982G>A

1 paper

NM_015001.3

p.Y669fs

c.2005_2006fs

1 paper

NM_015001.3

p.E670G

c.2009A>G

2 papers

NM_015001.3

p.R672*

c.2014C>T

1 paper

NM_015001.3

p.R672Q

c.2015G>A