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

2 papers

NM_015001.3

p.E1048*

c.3142G>T

Surrounding Variants

5 papers

NM_015001.3

p.I1052insFs

c.3154dupA

1 paper

NM_015001.3

p.K1050_I1052delFs

c.3150_3154del5

1 paper

NM_015001.3

p.K1046fs

c.3136_3137fs

1 paper

NM_015001.3

p.K1050fs

c.3148_3149fs

5 papers

NM_015001.3

p.I1052fs

c.3154_3155fs

3 papers

NM_015001.3

p.I1052fs

c.3154_3155fs

5 papers

NM_015001.3

p.E1043*

c.3127G>T

1 paper

NM_015001.3

p.R1056K

c.3167G>A

1 paper

NM_015001.3

p.P1039S

c.3115C>T

1 paper

NM_015001.3

p.E1036A

c.3107A>C

1 paper

NM_015001.3

p.A1035T

c.3103G>A

1 paper

NM_015001.3

p.S1062G

c.3184A>G