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

2 papers

NM_015001.3

p.P1620fs

c.4858_4859fs

Surrounding Variants

1 paper

NM_015001.3

p.P1620S

c.4858C>T

2 papers

NM_015001.3

p.P1620_L1631delFs

c.4858_4891del34

2 papers

NM_015001.3

p.S1629*

c.4886C>A

2 papers

NM_015001.3

p.S1629*

c.4886C>G

2 papers

NM_015001.3

p.Q1610*

c.4828C>T

1 paper

NM_015001.3

p.K1609E

c.4825A>G

1 paper

NM_015001.3

p.K1632fs

c.4894_4895fs

1 paper

NM_015001.3

p.E1608Q

c.4822G>C

1 paper

NM_015001.3

p.P1634S

c.4900C>T

1 paper

NM_015001.3

p.E1606Q

c.4816G>C

1 paper

NM_015001.3

p.S1636_P1639del4

c.4906_4916del12

3 papers

NM_015001.3

p.V1637A

c.4910T>C