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.T1756I

c.5267C>T

Surrounding Variants

1 paper

NM_015001.3

p.T1756P

c.5266A>C

1 paper

NM_015001.3

p.T1756T

c.5268C>G

1 paper

NM_015001.3

p.Q1757*

c.5269C>T

1 paper

NM_015001.3

p.S1755R

c.5263A>C

1 paper

NM_015001.3

p.P1751Q

c.5252C>A

1 paper

NM_015001.3

p.P1762S

c.5284C>T

2 papers

NM_015001.3

p.Q1764*

c.5290C>T

2 papers

NM_015001.3

p.Q1764P

c.5291A>C

1 paper

NM_015001.3

p.Q1764H

c.5292G>C

1 paper

NM_015001.3

p.Q1764H

c.5292G>T

1 paper

NM_015001.3

p.K1765fs

c.5293_5294fs

1 paper

NM_015001.3

p.K1765insFs

c.5294_5295ins5