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.E775insFs

c.2324_2325ins8

Surrounding Variants

2 papers

NM_015001.3

p.R773K

c.2318G>A

1 paper

NM_015001.3

p.P772insFs

c.2314_2315ins17

1 paper

NM_015001.3

p.D778_K779insA

c.2332_2336ins3

1 paper

NM_015001.3

p.L769delFs

c.2305delC

1 paper

NM_015001.3

p.S768L

c.2303C>T

2 papers

NM_015001.3

p.R781C

c.2341C>T

1 paper

NM_015001.3

p.R781H

c.2342G>A

1 paper

NM_015001.3

p.C766Y

c.2297G>A

1 paper

NM_015001.3

p.S765delFs

c.2294_2295delGC

1 paper

NM_015001.3

p.S765fs

c.2293_2294fs

4 papers

NM_015001.3

p.R784H

c.2351G>A

1 paper

NM_015001.3

p.Y785C

c.2354A>G