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.A2832T

c.8494G>A

Surrounding Variants

2 papers

NM_015001.3

p.S2831T

c.8492G>C

1 paper

NM_015001.3

p.Q2836*

c.8506C>T

1 paper

NM_015001.3

p.Q2836P

c.8507A>C

1 paper

NM_015001.3

p.E2825K

c.8473G>A

1 paper

NM_015001.3

p.E2825Q

c.8473G>C

1 paper

NM_015001.3

p.A2840fs

c.8518_8519fs

3 papers

NM_015001.3

p.S2841G

c.8521A>G

1 paper

NM_015001.3

p.Q2822*

c.8464C>T

3 papers

NM_015001.3

p.M2843V

c.8527A>G

1 paper

NM_015001.3

p.G2821R

c.8461G>A

1 paper

NM_015001.3

p.G2821R

c.8461G>C

2 papers

NM_015001.3

p.Y2819N

c.8455T>A