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.Y785C

c.2354A>G

Surrounding Variants

1 paper

NM_015001.3

p.T786fs

c.2356_2357fs

1 paper

NM_015001.3

p.T786K

c.2357C>A

3 papers

NM_015001.3

p.N788insFs

c.2363dupA

4 papers

NM_015001.3

p.R784H

c.2351G>A

3 papers

NM_015001.3

p.N788fs

c.2362_2363fs

1 paper

NM_015001.3

p.N788K

c.2364T>A

1 paper

NM_015001.3

p.N788K

c.2364T>G

1 paper

NM_015001.3

p.E789K

c.2365G>A

1 paper

NM_015001.3

p.R781H

c.2342G>A

2 papers

NM_015001.3

p.R781C

c.2341C>T

1 paper

NM_015001.3

p.K790*

c.2368A>T

1 paper

NM_015001.3

p.D778_K779insA

c.2332_2336ins3