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.S1652L

c.4955C>T

Surrounding Variants

2 papers

NM_015001.3

p.S1652*

c.4955C>A

2 papers

NM_015001.3

p.S1652*

c.4955C>G

1 paper

NM_015001.3

p.E1655Q

c.4963G>C

1 paper

NM_015001.3

p.L1647L

c.4941A>G

1 paper

NM_015001.3

p.V1645I

c.4933G>A

1 paper

NM_015001.3

p.D1660E

c.4980C>A

1 paper

NM_015001.3

p.D1660E

c.4980C>G

1 paper

NM_015001.3

p.T1643fs

c.4927_4928fs

1 paper

NM_015001.3

p.V1642_L1654delFs

c.4926_4962del37

1 paper

NM_015001.3

p.P1640S

c.4918C>T

3 papers

NM_015001.3

p.V1637A

c.4910T>C

2 papers

NM_015001.3

p.E1671_T1673delFs

c.5013_5017del5