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.A2182S

c.6544G>T

Surrounding Variants

1 paper

NM_015001.3

p.E2183K

c.6547G>A

1 paper

NM_015001.3

p.A2184_S2185del0

c.6550_6555del6

1 paper

NM_015001.3

p.K2180fs

c.6538_6539fs

1 paper

NM_015001.3

p.K2180fs

c.6538_6539fs

1 paper

NM_015001.3

p.K2180_A2182delFs

c.6539_6546del8

1 paper

NM_015001.3

p.A2179T

c.6535G>A

1 paper

NM_015001.3

p.S2185F

c.6554C>T

2 papers

NM_015001.3

p.S2187F

c.6560C>T

1 paper

NM_015001.3

p.E2176Q

c.6526G>C

1 paper

NM_015001.3

p.E2176*

c.6526G>T

2 papers

NM_015001.3

p.V2175M

c.6523G>A

1 paper

NM_015001.3

p.A2189D

c.6566C>A