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.N2053delFs

c.6158delA

Surrounding Variants

1 paper

NM_015001.3

p.N2053insFs

c.6158dupA

1 paper

NM_015001.3

p.D2051V

c.6152A>T

3 papers

NM_015001.3

p.N2053fs

c.6157_6158fs

1 paper

NM_015001.3

p.N2053fs

c.6157_6158fs

1 paper

NM_015001.3

p.N2053T

c.6158A>C

2 papers

NM_015001.3

p.P2055delFs

c.6164delC

1 paper

NM_015001.3

p.P2054T

c.6160C>A

3 papers

NM_015001.3

p.P2055fs

c.6163_6164fs

1 paper

NM_015001.3

p.A2058_P2067delFs

c.6173_6201del29

1 paper

NM_015001.3

p.P2059fs

c.6175_6176fs

1 paper

NM_015001.3

p.R2043H

c.6128G>A

1 paper

NM_015001.3

p.V2060I

c.6178G>A