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.Y756fs

c.2266_2267fs

Surrounding Variants

1 paper

NM_015001.3

p.Y756*

c.2268C>A

1 paper

NM_015001.3

p.Y756*

c.2268C>G

1 paper

NM_015001.3

p.S757I

c.2270G>T

1 paper

NM_015001.3

p.R754M

c.2261G>T

4 papers

NM_015001.3

p.R758*

c.2272C>T

1 paper

NM_015001.3

p.R758fs

c.2272_2273fs

1 paper

NM_015001.3

p.R758Q

c.2273G>A

1 paper

NM_015001.3

p.S760*

c.2279C>A

1 paper

NM_015001.3

p.S760*

c.2279C>G

1 paper

NM_015001.3

p.R762W

c.2284C>T

1 paper

NM_015001.3

p.P748L

c.2243C>T

1 paper

NM_015001.3

p.L747F

c.2241G>C