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

24 papers

NM_015001.3

p.L1091P

c.3272T>C

Surrounding Variants

2 papers

NM_015001.3

p.L1091V

c.3271C>G

2 papers

NM_015001.3

p.L1091delins

c.3271_3272delinsGC

1 paper

NM_015001.3

p.A1092delFs

c.3276delA

2 papers

NM_015001.3

p.E1090*

c.3268G>T

1 paper

NM_015001.3

p.G1093fs

c.3277_3278fs

1 paper

NM_015001.3

p.S1095C

c.3284C>G

1 paper

NM_015001.3

p.V1096M

c.3286G>A

1 paper

NM_015001.3

p.V1096fs

c.3286_3287fs

1 paper

NM_015001.3

p.E1097K

c.3289G>A

1 paper

NM_015001.3

p.E1097fs

c.3289_3290fs

1 paper

NM_015001.3

p.E1097_V1101Fs

c.3290_3301delinsCTGATTTFs

1 paper

NM_015001.3

p.L1084L

c.3252A>G