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

3 papers

NM_015001.3

p.S1248*

c.3743C>A

Surrounding Variants

3 papers

NM_015001.3

p.S1248*

c.3743C>G

1 paper

NM_015001.3

p.R1249H

c.3746G>A

1 paper

NM_015001.3

p.Y1245*

c.3735C>A

1 paper

NM_015001.3

p.Y1245*

c.3735C>G

1 paper

NM_015001.3

p.N1244fs

c.3730_3731fs

1 paper

NM_015001.3

p.N1244_R1246delFs

c.3732_3736del5

1 paper

NM_015001.3

p.S1255Y

c.3764C>A

1 paper

NM_015001.3

p.S1255F

c.3764C>T

1 paper

NM_015001.3

p.R1241Q

c.3722G>A

4 papers

NM_015001.3

p.R1241*

c.3721C>T

1 paper

NM_015001.3

p.E1256*

c.3766G>T

1 paper

NM_015001.3

p.K1240*

c.3718A>T