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.H829Y

c.2485C>T

Surrounding Variants

1 paper

NM_015001.3

p.K827fs

c.2479_2480fs

2 papers

NM_015001.3

p.K827delFs

c.2480delA

1 paper

NM_015001.3

p.S832G

c.2494A>G

1 paper

NM_015001.3

p.G826fs

c.2476_2477fs

3 papers

NM_015001.3

p.K825*

c.2473A>T

4 papers

NM_015001.3

p.Q834*

c.2500C>T

1 paper

NM_015001.3

p.Q822E

c.2464C>G

1 paper

NM_015001.3

p.E837V

c.2510A>T

1 paper

NM_015001.3

p.D820_Q834delFs

c.2460_2500del41

1 paper

NM_015001.3

p.D820fs

c.2458_2459fs

2 papers

NM_015001.3

p.T819I

c.2456C>T

1 paper

NM_015001.3

p.E841*

c.2521G>T