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.T894A

c.2680A>G

Surrounding Variants

1 paper

NM_015001.3

p.E897fs

c.2689_2690fs

1 paper

NM_015001.3

p.E897*

c.2689G>T

1 paper

NM_015001.3

p.E897delFs

c.2690delA

1 paper

NM_015001.3

p.K889R

c.2666A>G

1 paper

NM_015001.3

p.G888E

c.2663G>A

1 paper

NM_015001.3

p.A901fs

c.2701_2702fs

1 paper

NM_015001.3

p.L903_D906del4

c.2707_2717del12

1 paper

NM_015001.3

p.E885K

c.2653G>A

1 paper

NM_015001.3

p.K884*

c.2650A>T

1 paper

NM_015001.3

p.D904A

c.2711A>C

1 paper

NM_015001.3

p.D904G

c.2711A>G

1 paper

NM_015001.3

p.V883A

c.2648T>C