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.E2506*

c.7516G>T

Surrounding Variants

2 papers

NM_015001.3

p.A2510V

c.7529C>T

4 papers

NM_015001.3

p.W2501*

c.7503G>A

4 papers

NM_015001.3

p.W2501*

c.7502G>A

1 paper

NM_015001.3

p.E2500Q

c.7498G>C

1 paper

NM_015001.3

p.E2500fs

c.7498_7499fs

1 paper

NM_015001.3

p.E2500delFs

c.7499_7500delAG

2 papers

NM_015001.3

p.P2514fs

c.7540_7541fs

1 paper

NM_015001.3

p.V2498L

c.7492G>C

1 paper

NM_015001.3

p.V2498L

c.7492G>T

1 paper

NM_015001.3

p.S2515delFs

c.7544_7545delCT

1 paper

NM_015001.3

p.T2496fs

c.7486_7487fs

1 paper

NM_015001.3

p.P2516A

c.7546C>G