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.S1821N

c.5462G>A

Surrounding Variants

1 paper

NM_015001.3

p.K1820*

c.5458A>T

1 paper

NM_015001.3

p.R1823C

c.5467C>T

1 paper

NM_015001.3

p.D1815G

c.5444A>G

1 paper

NM_015001.3

p.D1815N

c.5443G>A

1 paper

NM_015001.3

p.Q1829insFs

c.5485_5486ins7

1 paper

NM_015001.3

p.Q1829*

c.5485C>T

1 paper

NM_015001.3

p.Q1829fs

c.5485_5486fs

1 paper

NM_015001.3

p.A1813T

c.5437G>A

1 paper

NM_015001.3

p.A1830V

c.5489C>T

1 paper

NM_015001.3

p.P1810_V1811insT

c.5428_5432ins3

2 papers

NM_015001.3

p.P1810A

c.5428C>G

1 paper

NM_015001.3

p.L1805*

c.5414T>A