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

2 papers

NM_015001.3

p.P1716H

c.5147C>A

Surrounding Variants

1 paper

NM_015001.3

p.M1715L

c.5143A>C

1 paper

NM_015001.3

p.E1721*

c.5161G>T

1 paper

NM_015001.3

p.D1709A

c.5126A>C

1 paper

NM_015001.3

p.S1723*

c.5168C>A

1 paper

NM_015001.3

p.S1723*

c.5168C>G

1 paper

NM_015001.3

p.S1723S

c.5169A>T

1 paper

NM_015001.3

p.S1724L

c.5171C>T

1 paper

NM_015001.3

p.A1706fs

c.5116_5117fs

1 paper

NM_015001.3

p.A1706delFs

c.5117delC

4 papers

NM_015001.3

p.Q1727*

c.5179C>T

1 paper

NM_015001.3

p.P1728S

c.5182C>T

1 paper

NM_015001.3

p.P1704fs

c.5110_5111fs