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.E1935Q

c.5803G>C

Surrounding Variants

2 papers

NM_015001.3

p.R1936*

c.5806C>T

1 paper

NM_015001.3

p.R1936Q

c.5807G>A

1 paper

NM_015001.3

p.A1943fs

c.5827_5828fs

1 paper

NM_015001.3

p.V1944L

c.5830G>C

1 paper

NM_015001.3

p.V1944A

c.5831T>C

1 paper

NM_015001.3

p.P1945fs

c.5833_5834fs

1 paper

NM_015001.3

p.E1925K

c.5773G>A

1 paper

NM_015001.3

p.E1925*

c.5773G>T

2 papers

NM_015001.3

p.P1945L

c.5834C>T

2 papers

NM_015001.3

p.P1923P

c.5769C>T

1 paper

NM_015001.3

p.V1920A

c.5759T>C

1 paper

NM_015001.3

p.R1950delFs

c.5849delG