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.Q2382*

c.7144C>T

Surrounding Variants

1 paper

NM_015001.3

p.P2381fs

c.7141_7142fs

1 paper

NM_015001.3

p.E2384*

c.7150G>T

3 papers

NM_015001.3

p.E2379K

c.7135G>A

1 paper

NM_015001.3

p.P2378P

c.7134C>T

1 paper

NM_015001.3

p.S2387_E2388delFs

c.7161_7164del4

1 paper

NM_015001.3

p.S2387fs

c.7159_7160fs

1 paper

NM_015001.3

p.H2391Y

c.7171C>T

2 papers

NM_015001.3

p.G2372R

c.7114G>A

2 papers

NM_015001.3

p.G2372R

c.7114G>C

1 paper

NM_015001.3

p.Q2396E

c.7186C>G

2 papers

NM_015001.3

p.Q2396*

c.7186C>T

1 paper

NM_015001.3

p.A2368T

c.7102G>A