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.E2595D

c.7785G>T

Surrounding Variants

1 paper

NM_015001.3

p.E2595D

c.7785G>C

1 paper

NM_015001.3

p.Q2597*

c.7789C>T

1 paper

NM_015001.3

p.N2593S

c.7778A>G

1 paper

NM_015001.3

p.N2592fs

c.7774_7775fs

1 paper

NM_015001.3

p.S2599*

c.7796C>A

2 papers

NM_015001.3

p.S2599L

c.7796C>T

2 papers

NM_015001.3

p.E2584*

c.7750G>T

1 paper

NM_015001.3

p.E2583K

c.7747G>A

1 paper

NM_015001.3

p.E2583*

c.7747G>T

1 paper

NM_015001.3

p.L2582S

c.7745T>C

1 paper

NM_015001.3

p.P2581fs

c.7741_7742fs

1 paper

NM_015001.3

p.V2610G

c.7829T>G