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.E1412fs

c.4234_4235fs

Surrounding Variants

1 paper

NM_015001.3

p.E1412K

c.4234G>A

1 paper

NM_015001.3

p.E1412D

c.4236A>C

1 paper

NM_015001.3

p.E1412D

c.4236A>T

1 paper

NM_015001.3

p.D1413N

c.4237G>A

1 paper

NM_015001.3

p.R1411delFs

c.4231_4232delAG

1 paper

NM_015001.3

p.L1408*

c.4223T>A

3 papers

NM_015001.3

p.R1416C

c.4246C>T

1 paper

NM_015001.3

p.L1408fs

c.4222_4223fs

1 paper

NM_015001.3

p.L1408_R1409delFs

c.4222_4225del4

2 papers

NM_015001.3

p.L1407fs

c.4219_4220fs

1 paper

NM_015001.3

p.L1407fs

c.4219_4220fs

4 papers

NM_015001.3

p.R1418*

c.4252C>T