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.P2519delFs

c.7555delC

Surrounding Variants

1 paper

NM_015001.3

p.L2518R

c.7553T>G

1 paper

NM_015001.3

p.P2519L

c.7556C>T

2 papers

NM_015001.3

p.P2520T

c.7558C>A

1 paper

NM_015001.3

p.P2520fs

c.7558_7559fs

1 paper

NM_015001.3

p.P2516L

c.7547C>T

1 paper

NM_015001.3

p.P2516A

c.7546C>G

1 paper

NM_015001.3

p.S2515delFs

c.7544_7545delCT

2 papers

NM_015001.3

p.P2514fs

c.7540_7541fs

1 paper

NM_015001.3

p.S2525F

c.7574C>T

1 paper

NM_015001.3

p.D2526A

c.7577A>C

2 papers

NM_015001.3

p.A2510V

c.7529C>T

1 paper

NM_015001.3

p.D2528E

c.7584C>A