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.S1342C

c.4025C>G

Surrounding Variants

1 paper

NM_015001.3

p.Q1343insFs

c.4027_4028ins14

2 papers

NM_015001.3

p.W1340*

c.4020G>A

1 paper

NM_015001.3

p.W1340*

c.4019G>A

2 papers

NM_015001.3

p.R1339C

c.4015C>T

1 paper

NM_015001.3

p.Q1346*

c.4036C>T

1 paper

NM_015001.3

p.A1348T

c.4042G>A

1 paper

NM_015001.3

p.E1336K

c.4006G>A

1 paper

NM_015001.3

p.R1350K

c.4049G>A

1 paper

NM_015001.3

p.E1334K

c.4000G>A

1 paper

NM_015001.3

p.S1333F

c.3998C>T

1 paper

NM_015001.3

p.D1352H

c.4054G>C

1 paper

NM_015001.3

p.D1352V

c.4055A>T