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.K2319*

c.6955A>T

Surrounding Variants

1 paper

NM_015001.3

p.K2319E

c.6955A>G

1 paper

NM_015001.3

p.S2318S

c.6954T>C

1 paper

NM_015001.3

p.E2320_V2321delFs

c.6959_6963del5

1 paper

NM_015001.3

p.E2320delFs

c.6960delA

1 paper

NM_015001.3

p.V2321fs

c.6961_6962fs

1 paper

NM_015001.3

p.K2316insFs

c.6948dupA

1 paper

NM_015001.3

p.A2315V

c.6944C>T

1 paper

NM_015001.3

p.T2324_L2325ins8

c.6970_6974ins24

1 paper

NM_015001.3

p.T2324T

c.6972T>A

1 paper

NM_015001.3

p.L2325fs

c.6973_6974fs

1 paper

NM_015001.3

p.L2325delFs

c.6974_6975delTT

1 paper

NM_015001.3

p.L2325fs

c.6973_6974fs