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

8 papers

NM_015001.3

p.S2306del1

c.6916_6917delAGT

Surrounding Variants

11 papers

NM_015001.3

p.S2305_S2306del1

c.6915_6917delCAG

1 paper

NM_015001.3

p.S2309*

c.6926C>A

1 paper

NM_015001.3

p.S2309*

c.6926C>G

3 papers

NM_015001.3

p.S2311*

c.6932C>A

3 papers

NM_015001.3

p.S2311*

c.6932C>G

1 paper

NM_015001.3

p.S2311L

c.6932C>T

1 paper

NM_015001.3

p.T2298I

c.6893C>T

1 paper

NM_015001.3

p.A2315V

c.6944C>T

1 paper

NM_015001.3

p.K2316insFs

c.6948dupA

2 papers

NM_015001.3

p.G2294S

c.6880G>A

1 paper

NM_015001.3

p.G2294_P2295del2

c.6880_6884del6

1 paper

NM_015001.3

p.S2292S

c.6876A>G