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.V1022_S1023insFs

c.3066_3067insT

Surrounding Variants

1 paper

NM_015001.3

p.S1023F

c.3068C>T

4 papers

NM_015001.3

p.V1022M

c.3064G>A

1 paper

NM_015001.3

p.S1024C

c.3071C>G

1 paper

NM_015001.3

p.D1021fs

c.3061_3062fs

1 paper

NM_015001.3

p.R1025K

c.3074G>A

1 paper

NM_015001.3

p.R1025T

c.3074G>C

1 paper

NM_015001.3

p.S1016fs

c.3046_3047fs

2 papers

NM_015001.3

p.L1015L

c.3045T>A

1 paper

NM_015001.3

p.R1013H

c.3038G>A

2 papers

NM_015001.3

p.R1013C

c.3037C>T

1 paper

NM_015001.3

p.G1033fs

c.3097_3098fs

1 paper

NM_015001.3

p.E1034*

c.3100G>T