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.S2811F

c.8432C>T

Surrounding Variants

1 paper

NM_015001.3

p.E2812*

c.8434G>T

1 paper

NM_015001.3

p.R2807H

c.8420G>A

1 paper

NM_015001.3

p.L2806ins2

c.8417_8418ins6

2 papers

NM_015001.3

p.A2804fs

c.8410_8411fs

2 papers

NM_015001.3

p.Y2819N

c.8455T>A

1 paper

NM_015001.3

p.S2802_G2803delFs

c.8406_8407delAG

1 paper

NM_015001.3

p.G2821R

c.8461G>A

1 paper

NM_015001.3

p.G2821R

c.8461G>C

1 paper

NM_015001.3

p.Q2822*

c.8464C>T

1 paper

NM_015001.3

p.A2800A

c.8400G>A

5 papers

NM_015001.3

p.A2800V

c.8399C>T

1 paper

NM_015001.3

p.A2800T

c.8398G>A