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.I1535S

c.4604T>G

Surrounding Variants

1 paper

NM_015001.3

p.E1537*

c.4609G>T

1 paper

NM_015001.3

p.H1532Y

c.4594C>T

2 papers

NM_015001.3

p.L1531fs

c.4591_4592fs

1 paper

NM_015001.3

p.L1531delFs

c.4592delT

1 paper

NM_015001.3

p.R1529C

c.4585C>T

6 papers

NM_015001.3

p.R1542*

c.4624C>T

1 paper

NM_015001.3

p.R1542Q

c.4625G>A

1 paper

NM_015001.3

p.E1524*

c.4570G>T

1 paper

NM_015001.3

p.Q1520*

c.4558C>T

1 paper

NM_015001.3

p.E1551K

c.4651G>A

1 paper

NM_015001.3

p.E1517V

c.4550A>T

1 paper

NM_015001.3

p.D1554H

c.4660G>C