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.S1062N

c.3185G>A

Surrounding Variants

1 paper

NM_015001.3

p.S1062G

c.3184A>G

1 paper

NM_015001.3

p.K1064E

c.3190A>G

1 paper

NM_015001.3

p.K1064I

c.3191A>T

4 papers

NM_015001.3

p.Q1067*

c.3199C>T

1 paper

NM_015001.3

p.R1056K

c.3167G>A

5 papers

NM_015001.3

p.I1052fs

c.3154_3155fs

3 papers

NM_015001.3

p.I1052fs

c.3154_3155fs

1 paper

NM_015001.3

p.K1050fs

c.3148_3149fs

5 papers

NM_015001.3

p.I1052insFs

c.3154dupA

1 paper

NM_015001.3

p.K1050_I1052delFs

c.3150_3154del5

2 papers

NM_015001.3

p.E1048*

c.3142G>T

2 papers

NM_015001.3

p.S1078*

c.3233C>A