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.P643P

c.1929T>C

Surrounding Variants

1 paper

NM_015001.3

p.D645H

c.1933G>C

1 paper

NM_015001.3

p.S646F

c.1937C>T

1 paper

NM_015001.3

p.G640_T641del2

c.1918_1922del6

1 paper

NM_015001.3

p.T638S

c.1913C>G

7 papers

NM_015001.3

p.R637Q

c.1910G>A

2 papers

NM_015001.3

p.Y650C

c.1949A>G

2 papers

NM_015001.3

p.R637*

c.1909C>T

1 paper

NM_015001.3

p.R653Q

c.1958G>A

1 paper

NM_015001.3

p.R653P

c.1958G>C

1 paper

NM_015001.3

p.G654fs

c.1960_1961fs

1 paper

NM_015001.3

p.G654_R655delFs

c.1962_1963delGA

1 paper

NM_015001.3

p.R655_E656insA

c.1963_1967ins3