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.R1982W

c.5944C>T

Surrounding Variants

1 paper

NM_015001.3

p.R1982Q

c.5945G>A

1 paper

NM_015001.3

p.E1979Q

c.5935G>C

1 paper

NM_015001.3

p.R1985S

c.5955G>C

1 paper

NM_015001.3

p.R1985S

c.5955G>T

1 paper

NM_015001.3

p.P1977S

c.5929C>T

1 paper

NM_015001.3

p.K1976fs

c.5926_5927fs

1 paper

NM_015001.3

p.E1973K

c.5917G>A

1 paper

NM_015001.3

p.Q1996_K1998del3

c.5986_5993del9

1 paper

NM_015001.3

p.E1967K

c.5899G>A

1 paper

NM_015001.3

p.N1966N

c.5898C>T

1 paper

NM_015001.3

p.K1999delFs

c.5996delA

1 paper

NM_015001.3

p.K1999fs

c.5995_5996fs