Varaico: Literature-Extracted Genetic Variants

RCOR1

49 papers

RefSeq Summary

This gene encodes a protein that is well-conserved, downregulated at birth, and with a specific role in determining neural cell differentiation. The encoded protein binds to the C-terminal domain of R...

Pfam Domains

ELM2aa 105–158UCSCELM2 domain

Myb_DNA-bindingaa 192–237UCSCMyb-like DNA-binding domain

REST_helicalaa 311–375UCSCHelical region in REST corepressor

Myb_DNA-bindingaa 384–428UCSCMyb-like DNA-binding domain

Gene Aliases

HGNC Name

REST corepressor 1

HGNC Alias Symbols

COREST; KIAA0071

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015156.4

p.S84R

c.252C>G

Surrounding Variants

1 paper

NM_015156.4

p.S84R

c.252C>A

1 paper

NM_015156.4

p.N85H

c.253A>C

1 paper

NM_015156.4

p.S84R

c.250A>C

1 paper

NM_015156.4

p.E88G

c.263A>G

1 paper

NM_015156.4

p.G80D

c.239G>A

1 paper

NM_015156.4

p.P78L

c.233C>T

1 paper

NM_015156.4

p.S92T

c.274T>A

1 paper

NM_015156.4

p.A76V

c.227C>T

1 paper

NM_015156.4

p.G93S

c.277G>A

1 paper

NM_015156.4

p.A76_A77insCCG

c.226_230ins9

1 paper

NM_015156.4

p.S94*

c.281C>A

1 paper

NM_015156.4

p.A75S

c.223G>T