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

3 papers

NM_015001.3

p.Q1863H

c.5589G>T

Surrounding Variants

3 papers

NM_015001.3

p.Q1863H

c.5589G>C

1 paper

NM_015001.3

p.A1862S

c.5584G>T

1 paper

NM_015001.3

p.G1860*

c.5578G>T

1 paper

NM_015001.3

p.R1859W

c.5575C>T

1 paper

NM_015001.3

p.S1857C

c.5570C>G

2 papers

NM_015001.3

p.S1857F

c.5570C>T

7 papers

NM_015001.3

p.N1856S

c.5567A>G

1 paper

NM_015001.3

p.S1855C

c.5564C>G

2 papers

NM_015001.3

p.R1854Q

c.5561G>A

1 paper

NM_015001.3

p.R1854W

c.5560C>T

1 paper

NM_015001.3

p.S1880S

c.5640T>C

1 paper

NM_015001.3

p.E1845K

c.5533G>A