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

1–12 of 40 variants

2 papers

NM_014325.4

p.P313P

c.939T>G

2 papers

NM_014325.4

p.K418E

c.1252A>G

2 papers

NM_014325.4

p.K419E

c.1255A>G

2 papers

NM_014325.4

p.K428E

c.1282A>G

2 papers

NM_014325.4

p.S463A

c.1387T>G

1 paper

NM_014325.4

p.R3*

c.7C>T

1 paper

NM_014325.4

p.V4A

c.11T>C

1 paper

NM_014325.4

p.R6R

c.16C>A

1 paper

NM_014325.4

p.R31_V32delFs

c.91_94del4

1 paper

NM_014325.4

p.A52V

c.155C>T

1 paper

NM_014325.4

p.A57V

c.170C>T

1 paper

NM_014325.4

p.K65K

c.195G>A