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.S2075_K2076delFs

c.6223_6227del5

Surrounding Variants

1 paper

NM_015001.3

p.S2073_S2075del3

c.6217_6224del9

4 papers

NM_015001.3

p.N2072fs

c.6214_6215fs

1 paper

NM_015001.3

p.S2075fs

c.6223_6224fs

1 paper

NM_015001.3

p.K2076fs

c.6226_6227fs

1 paper

NM_015001.3

p.K2076M

c.6227A>T

1 paper

NM_015001.3

p.E2070K

c.6208G>A

2 papers

NM_015001.3

p.N2072insFs

c.6215dupA

2 papers

NM_015001.3

p.E2070fs

c.6208_6209fs

1 paper

NM_015001.3

p.P2069L

c.6206C>T

1 paper

NM_015001.3

p.G2078A

c.6233G>C

1 paper

NM_015001.3

p.P2067L

c.6200C>T

1 paper

NM_015001.3

p.K2066N

c.6198A>C