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.P2858L

c.8573C>T

Surrounding Variants

1 paper

NM_015001.3

p.T2862fs

c.8584_8585fs

1 paper

NM_015001.3

p.S2854F

c.8561C>T

1 paper

NM_015001.3

p.S2864L

c.8591C>T

1 paper

NM_015001.3

p.S2850*

c.8549C>A

1 paper

NM_015001.3

p.S2850*

c.8549C>G

1 paper

NM_015001.3

p.E2846insFs

c.8537_8538ins19

2 papers

NM_015001.3

p.E2846fs

c.8536_8537fs

1 paper

NM_015001.3

p.I2845T

c.8534T>C

3 papers

NM_015001.3

p.M2843V

c.8527A>G

1 paper

NM_015001.3

p.P2874delFs

c.8620delC

1 paper

NM_015001.3

p.P2874fs

c.8620_8621fs

3 papers

NM_015001.3

p.S2841G

c.8521A>G