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

2 papers

NM_015001.3

p.V1211fs

c.3631_3632fs

Surrounding Variants

1 paper

NM_015001.3

p.V1211_V1218delFs

c.3632_3654del23

1 paper

NM_015001.3

p.E1210K

c.3628G>A

1 paper

NM_015001.3

p.G1212D

c.3635G>A

1 paper

NM_015001.3

p.H1209N

c.3625C>A

1 paper

NM_015001.3

p.P1214P

c.3642C>T

1 paper

NM_015001.3

p.T1219_P1223delFs

c.3655_3668del14

1 paper

NM_015001.3

p.T1219fs

c.3655_3656fs

1 paper

NM_015001.3

p.D1220N

c.3658G>A

1 paper

NM_015001.3

p.D1220H

c.3658G>C

1 paper

NM_015001.3

p.D1221N

c.3661G>A

1 paper

NM_015001.3

p.D1221fs

c.3661_3662fs

1 paper

NM_015001.3

p.D1221_S1222delFs

c.3663_3664delCT