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.T3246fs

c.9736_9737fs

Surrounding Variants

5 papers

NM_015001.3

p.T3246P

c.9736A>C

1 paper

NM_015001.3

p.P3247_A3248del2

c.9739_9743del6

3 papers

NM_015001.3

p.P3247_A3248delFs

c.9741_9742delTG

1 paper

NM_015001.3

p.P3247P

c.9741T>C

1 paper

NM_015001.3

p.P3247_A3248delins

c.9741_9742delinsCC

6 papers

NM_015001.3

p.T3244P

c.9730A>C

1 paper

NM_015001.3

p.T3244_T3246delFs

c.9731_9737del7

3 papers

NM_015001.3

p.A3248P

c.9742G>C

2 papers

NM_015001.3

p.A3248fs

c.9742_9743fs

1 paper

NM_015001.3

p.V3250del1

c.9748_9749delGTC

1 paper

NM_015001.3

p.P3253_P3255ins1

c.9759_9764dup6

2 papers

NM_015001.3

p.V3250delFs

c.9748_9749delGT