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.S1109*

c.3326C>G

Surrounding Variants

2 papers

NM_015001.3

p.S1109*

c.3326C>A

1 paper

NM_015001.3

p.S1109S

c.3327A>T

1 paper

NM_015001.3

p.K1110*

c.3328A>T

2 papers

NM_015001.3

p.P1106fs

c.3316_3317fs

1 paper

NM_015001.3

p.L1113fs

c.3337_3338fs

1 paper

NM_015001.3

p.K1105fs

c.3313_3314fs

1 paper

NM_015001.3

p.K1114*

c.3340A>T

2 papers

NM_015001.3

p.K1114R

c.3341A>G

1 paper

NM_015001.3

p.S1103*

c.3308C>A

3 papers

NM_015001.3

p.K1105insFs

c.3314dupA

1 paper

NM_015001.3

p.S1103*

c.3308C>G

1 paper

NM_015001.3

p.Q1102*

c.3304C>T