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.R1229M

c.3686G>T

Surrounding Variants

1 paper

NM_015001.3

p.K1228fs

c.3682_3683fs

1 paper

NM_015001.3

p.K1228*

c.3682A>T

1 paper

NM_015001.3

p.K1228fs

c.3682_3683fs

1 paper

NM_015001.3

p.K1227N

c.3681G>C

1 paper

NM_015001.3

p.K1227N

c.3681G>T

1 paper

NM_015001.3

p.K1227*

c.3679A>T

2 papers

NM_015001.3

p.H1232R

c.3695A>G

1 paper

NM_015001.3

p.K1226fs

c.3676_3677fs

2 papers

NM_015001.3

p.K1228_R1229delFs

c.3682_3686del5

2 papers

NM_015001.3

p.D1234N

c.3700G>A

1 paper

NM_015001.3

p.P1224P

c.3672T>C

1 paper

NM_015001.3

p.S1222F

c.3665C>T