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.S2090P

c.6268T>C

Surrounding Variants

1 paper

NM_015001.3

p.S2090F

c.6269C>T

1 paper

NM_015001.3

p.K2089T

c.6266A>C

1 paper

NM_015001.3

p.K2089R

c.6266A>G

1 paper

NM_015001.3

p.A2091T

c.6271G>A

1 paper

NM_015001.3

p.S2092G

c.6274A>G

1 paper

NM_015001.3

p.D2088H

c.6262G>C

1 paper

NM_015001.3

p.A2086P

c.6256G>C

1 paper

NM_015001.3

p.R2084T

c.6251G>C

3 papers

NM_015001.3

p.R2081Q

c.6242G>A

1 paper

NM_015001.3

p.S2101insFs

c.6301dupA

1 paper

NM_015001.3

p.S2101fs

c.6301_6302fs

1 paper

NM_015001.3

p.G2078A

c.6233G>C