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.S3003S

c.9009G>A

Surrounding Variants

1 paper

NM_015001.3

p.S3003W

c.9008C>G

1 paper

NM_015001.3

p.S3003L

c.9008C>T

1 paper

NM_015001.3

p.V3001A

c.9002T>C

1 paper

NM_015001.3

p.S3006N

c.9017G>A

1 paper

NM_015001.3

p.D3010Y

c.9028G>T

3 papers

NM_015001.3

p.R3011*

c.9031C>T

8 papers

NM_015001.3

p.R3011Q

c.9032G>A

1 paper

NM_015001.3

p.R3011L

c.9032G>T

1 paper

NM_015001.3

p.H3015N

c.9043C>A

1 paper

NM_015001.3

p.H3015Y

c.9043C>T

1 paper

NM_015001.3

p.P2991H

c.8972C>A

1 paper

NM_015001.3

p.L3016fs

c.9046_9047fs