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.D682E

c.2046T>G

Surrounding Variants

1 paper

NM_015001.3

p.D682E

c.2046T>A

1 paper

NM_015001.3

p.Y683H

c.2047T>C

1 paper

NM_015001.3

p.R681M

c.2042G>T

2 papers

NM_015001.3

p.R678Q

c.2033G>A

1 paper

NM_015001.3

p.Y674Y

c.2022C>T

1 paper

NM_015001.3

p.Y674C

c.2021A>G

1 paper

NM_015001.3

p.D691_I692del1

c.2073_2075delTAT

1 paper

NM_015001.3

p.Y674_D675ins16

c.2020_2024ins48

1 paper

NM_015001.3

p.R672Q

c.2015G>A

2 papers

NM_015001.3

p.R672*

c.2014C>T

1 paper

NM_015001.3

p.R693K

c.2078G>A

1 paper

NM_015001.3

p.E670G

c.2009A>G