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.P3255S

c.9763C>T

Surrounding Variants

1 paper

NM_015001.3

p.V3254A

c.9761T>C

1 paper

NM_015001.3

p.V3254fs

c.9760_9761fs

2 papers

NM_015001.3

p.P3253_V3254delFs

c.9759_9760delTG

1 paper

NM_015001.3

p.P3253fs

c.9757_9758fs

1 paper

NM_015001.3

p.A3258S

c.9772G>T

1 paper

NM_015001.3

p.A3258V

c.9773C>T

1 paper

NM_015001.3

p.V3250A

c.9749T>C

1 paper

NM_015001.3

p.V3250I

c.9748G>A

2 papers

NM_015001.3

p.V3250L

c.9748G>C

1 paper

NM_015001.3

p.V3250fs

c.9748_9749fs

1 paper

NM_015001.3

p.P3253_P3255ins1

c.9759_9764dup6

2 papers

NM_015001.3

p.V3250delFs

c.9748_9749delGT