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.R2340L

c.7019G>T

Surrounding Variants

1 paper

NM_015001.3

p.R2340fs

c.7018_7019fs

1 paper

NM_015001.3

p.R2339C

c.7015C>T

1 paper

NM_015001.3

p.R2342*

c.7024C>T

1 paper

NM_015001.3

p.S2338*

c.7013C>A

1 paper

NM_015001.3

p.S2338*

c.7013C>G

1 paper

NM_015001.3

p.R2342Q

c.7025G>A

1 paper

NM_015001.3

p.R2337*

c.7009C>T

1 paper

NM_015001.3

p.N2345I

c.7034A>T

1 paper

NM_015001.3

p.K2347fs

c.7039_7040fs

1 paper

NM_015001.3

p.K2347insFs

c.7039_7040insT

1 paper

NM_015001.3

p.R2332H

c.6995G>A

1 paper

NM_015001.3

p.V2349_V2352del0

c.7045_7056del12