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.E3130D

c.9390G>C

Surrounding Variants

1 paper

NM_015001.3

p.E3130D

c.9390G>T

1 paper

NM_015001.3

p.R3132delFs

c.9394_9395delAG

1 paper

NM_015001.3

p.R3132fs

c.9394_9395fs

1 paper

NM_015001.3

p.R3132G

c.9394A>G

1 paper

NM_015001.3

p.R3132R

c.9396G>A

1 paper

NM_015001.3

p.A3133T

c.9397G>A

1 paper

NM_015001.3

p.P3134S

c.9400C>T

1 paper

NM_015001.3

p.R3136C

c.9406C>T

2 papers

NM_015001.3

p.R3136H

c.9407G>A

1 paper

NM_015001.3

p.P3123Q

c.9368C>A

1 paper

NM_015001.3

p.P3140L

c.9419C>T

1 paper

NM_015001.3

p.Q3141*

c.9421C>T