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.E803K

c.2407G>A

Surrounding Variants

1 paper

NM_015001.3

p.E803fs

c.2407_2408fs

1 paper

NM_015001.3

p.E803*

c.2407G>T

1 paper

NM_015001.3

p.V802_E803insFs

c.2406_2407insA

5 papers

NM_015001.3

p.R806insFs

c.2417_2418dupGA

8 papers

NM_015001.3

p.E803delFs

c.2407_2408delGA

1 paper

NM_015001.3

p.R804fs

c.2410_2411fs

1 paper

NM_015001.3

p.R801G

c.2401A>G

1 paper

NM_015001.3

p.E800A

c.2399A>C

1 paper

NM_015001.3

p.E805D

c.2415G>C

1 paper

NM_015001.3

p.E805D

c.2415G>T

8 papers

NM_015001.3

p.R806fs

c.2416_2417fs

2 papers

NM_015001.3

p.R806fs

c.2416_2417fs