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.A30T

c.88G>A

Surrounding Variants

1 paper

NM_015156.4

p.A30S

c.88G>T

1 paper

NM_015156.4

p.S31P

c.91T>C

1 paper

NM_015156.4

p.S31A

c.91T>G

1 paper

NM_015156.4

p.S26ins1

c.76_77insCCG

1 paper

NM_015156.4

p.S24F

c.71C>T

1 paper

NM_015156.4

p.A22ins2

c.64_65ins6

1 paper

NM_015156.4

p.A22_A28del7

c.64_83del21

1 paper

NM_015156.4

p.A21V

c.62C>T

1 paper

NM_015156.4

p.N20S

c.59A>G

1 paper

NM_015156.4

p.A42G

c.125C>G

1 paper

NM_015156.4

p.A43S

c.127G>T

1 paper

NM_015156.4

p.R16G

c.46A>G