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.P721L

c.2162C>T

Surrounding Variants

1 paper

NM_015001.3

p.P721S

c.2161C>T

5 papers

NM_015001.3

p.R724*

c.2170C>T

1 paper

NM_015001.3

p.E718*

c.2152G>T

2 papers

NM_015001.3

p.Q726*

c.2176C>T

2 papers

NM_015001.3

p.Q726R

c.2177A>G

1 paper

NM_015001.3

p.S727C

c.2179A>T

1 paper

NM_015001.3

p.P728_V729delFs

c.2184_2185delTG

2 papers

NM_015001.3

p.R713W

c.2137C>T

1 paper

NM_015001.3

p.H730Y

c.2188C>T

3 papers

NM_015001.3

p.R732*

c.2194C>T

1 paper

NM_015001.3

p.E710*

c.2128G>T

2 papers

NM_015001.3

p.R733C

c.2197C>T