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.S3069C

c.9206C>G

Surrounding Variants

1 paper

NM_015001.3

p.I3071L

c.9211A>C

1 paper

NM_015001.3

p.H3072D

c.9214C>G

1 paper

NM_015001.3

p.Q3066_F3067insT

c.9196_9200ins3

1 paper

NM_015001.3

p.E3074Q

c.9220G>C

1 paper

NM_015001.3

p.P3063Q

c.9188C>A

1 paper

NM_015001.3

p.I3062M

c.9186C>G

2 papers

NM_015001.3

p.P3080L

c.9239C>T

1 paper

NM_015001.3

p.A3054T

c.9160G>A

1 paper

NM_015001.3

p.A3054P

c.9160G>C

1 paper

NM_015001.3

p.N3053T

c.9158A>C

1 paper

NM_015001.3

p.Q3086K

c.9256C>A

1 paper

NM_015001.3

p.L3093V

c.9277C>G