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

2 papers

NM_015001.3

p.A2728T

c.8182G>A

Surrounding Variants

3 papers

NM_015001.3

p.A2727A

c.8181C>T

1 paper

NM_015001.3

p.A2728_A2729ins7

c.8184_8185ins21

1 paper

NM_015001.3

p.A2721T

c.8161G>A

1 paper

NM_015001.3

p.A2720V

c.8159C>T

1 paper

NM_015001.3

p.V2741I

c.8221G>A

1 paper

NM_015001.3

p.T2714K

c.8141C>A

1 paper

NM_015001.3

p.T2714M

c.8141C>T

1 paper

NM_015001.3

p.T2742P

c.8224A>C

1 paper

NM_015001.3

p.A2743V

c.8228C>T

1 paper

NM_015001.3

p.G2744D

c.8231G>A

1 paper

NM_015001.3

p.G2744V

c.8231G>T

1 paper

NM_015001.3

p.A2745V

c.8234C>T