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.L2137F

c.6411G>T

Surrounding Variants

1 paper

NM_015001.3

p.L2137F

c.6411G>C

1 paper

NM_015001.3

p.Q2136Q

c.6408G>A

1 paper

NM_015001.3

p.Q2136L

c.6407A>T

2 papers

NM_015001.3

p.P2141A

c.6421C>G

3 papers

NM_015001.3

p.D2131G

c.6392A>G

1 paper

NM_015001.3

p.D2145H

c.6433G>C

1 paper

NM_015001.3

p.E2130K

c.6388G>A

1 paper

NM_015001.3

p.K2146E

c.6436A>G

1 paper

NM_015001.3

p.E2149K

c.6445G>A

1 paper

NM_015001.3

p.E2149Q

c.6445G>C

1 paper

NM_015001.3

p.E2151K

c.6451G>A

1 paper

NM_015001.3

p.E2151Q

c.6451G>C