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.D2401N

c.7201G>A

Surrounding Variants

1 paper

NM_015001.3

p.D2401_K2404delFs

c.7201_7211del11

2 papers

NM_015001.3

p.L2402fs

c.7204_7205fs

2 papers

NM_015001.3

p.K2404N

c.7212G>C

2 papers

NM_015001.3

p.K2404N

c.7212G>T

1 paper

NM_015001.3

p.P2406_S2407insA

c.7216_7220ins3

2 papers

NM_015001.3

p.P2406_S2407insGA

c.7216_7220ins6

1 paper

NM_015001.3

p.Q2396E

c.7186C>G

2 papers

NM_015001.3

p.Q2396*

c.7186C>T

1 paper

NM_015001.3

p.S2407_T2408del2

c.7219_7223del6

1 paper

NM_015001.3

p.E2409*

c.7225G>T

1 paper

NM_015001.3

p.H2391Y

c.7171C>T

3 papers

NM_015001.3

p.S2411*

c.7232C>A