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.P969delFs

c.2906delC

Surrounding Variants

1 paper

NM_015001.3

p.P969delFs

c.2906_2907delCT

1 paper

NM_015001.3

p.P969fs

c.2905_2906fs

1 paper

NM_015001.3

p.P969L

c.2906C>T

12 papers

NM_015001.3

p.A970V

c.2909C>T

1 paper

NM_015001.3

p.G972W

c.2914G>T

1 paper

NM_015001.3

p.K965*

c.2893A>T

1 paper

NM_015001.3

p.V973insFs

c.2918dupT

1 paper

NM_015001.3

p.V973G

c.2918T>G

2 papers

NM_015001.3

p.K962T

c.2885A>C

1 paper

NM_015001.3

p.D977V

c.2930A>T

1 paper

NM_015001.3

p.R984_K985insA

c.2950_2954ins3

1 paper

NM_015001.3

p.V952M

c.2854G>A