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.A2251fs

c.6751_6752fs

Surrounding Variants

1 paper

NM_015001.3

p.A2251P

c.6751G>C

2 papers

NM_015001.3

p.A2251fs

c.6751_6752fs

1 paper

NM_015001.3

p.P2249L

c.6746C>T

1 paper

NM_015001.3

p.P2250insFs

c.6750dupC

1 paper

NM_015001.3

p.P2250delFs

c.6750delC

1 paper

NM_015001.3

p.D2246Y

c.6736G>T

1 paper

NM_015001.3

p.T2245ins2

c.6734_6735ins6

1 paper

NM_015001.3

p.Q2257*

c.6769C>T

1 paper

NM_015001.3

p.Q2244H

c.6732G>C

1 paper

NM_015001.3

p.Q2244H

c.6732G>T

1 paper

NM_015001.3

p.E2260*

c.6778G>T

5 papers

NM_015001.3

p.P2240L

c.6719C>T