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.S2359P

c.7075T>C

Surrounding Variants

1 paper

NM_015001.3

p.N2360_Q2361delFs

c.7080_7083del4

21 papers

NM_015001.3

p.N2360D

c.7078A>G

1 paper

NM_015001.3

p.N2360fs

c.7078_7079fs

1 paper

NM_015001.3

p.E2358K

c.7072G>A

1 paper

NM_015001.3

p.Q2363_G2364insA

c.7087_7091ins3

1 paper

NM_015001.3

p.A2368T

c.7102G>A

1 paper

NM_015001.3

p.V2349_V2352del0

c.7045_7056del12

1 paper

NM_015001.3

p.K2347fs

c.7039_7040fs

1 paper

NM_015001.3

p.K2347insFs

c.7039_7040insT

2 papers

NM_015001.3

p.G2372R

c.7114G>A

2 papers

NM_015001.3

p.G2372R

c.7114G>C

1 paper

NM_015001.3

p.N2345I

c.7034A>T