Varaico: Literature-Extracted Genetic Variants

CORO1C

43 papers

RefSeq Summary

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may fac...

Pfam Domains

DUF1899aa 3–68UCSCDomain of unknown function (DUF1899)

WD40aa 71–109UCSCWD domain, G-beta repeat

WD40aa 120–159UCSCWD domain, G-beta repeat

WD40aa 166–202UCSCWD domain, G-beta repeat

WD40_4aa 343–385UCSCType of WD40 repeat

Gene Aliases

HGNC Name

coronin 1C

HGNC Alias Symbols

coronin-3; HCRNN4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014325.4

p.H260Q

c.780T>G

Surrounding Variants

1 paper

NM_014325.4

p.H260Q

c.780T>A

1 paper

NM_014325.4

p.T264P

c.790A>C

1 paper

NM_014325.4

p.S278S

c.834C>T

1 paper

NM_014325.4

p.Y281Y

c.843C>T

2 papers

NM_014325.4

p.P313P

c.939T>G

1 paper

NM_014325.4

p.G316V

c.947G>T

1 paper

NM_014325.4

p.M317L

c.949A>C

1 paper

NM_014325.4

p.S241S

c.723C>T

1 paper

NM_014325.4

p.R239H

c.716G>A

1 paper

NM_014325.4

p.R239C

c.715C>T

1 paper

NM_014325.4

p.D229N

c.685G>A

1 paper

NM_014325.4

p.A228A

c.684C>T