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

1–12 of 1821 variants

24 papers

NM_015001.3

p.L1091P

c.3272T>C

21 papers

NM_015001.3

p.N2360D

c.7078A>G

12 papers

NM_015001.3

p.A970V

c.2909C>T

11 papers

NM_015001.3

p.S2305_S2306del1

c.6915_6917delCAG

9 papers

NM_015001.3

p.Q1798*

c.5392C>T

8 papers

NM_015001.3

p.E803delFs

c.2407_2408delGA

8 papers

NM_015001.3

p.R806fs

c.2416_2417fs

8 papers

NM_015001.3

p.R1265*

c.3793C>T

8 papers

NM_015001.3

p.S2306del1

c.6916_6917delAGT

8 papers

NM_015001.3

p.R3011Q

c.9032G>A

7 papers

NM_015001.3

p.R637Q

c.1910G>A

7 papers

NM_015001.3

p.N1856S

c.5567A>G