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.S412R

c.1234A>C

Surrounding Variants

1 paper

NM_014325.4

p.S412R

c.1236C>G

1 paper

NM_014325.4

p.S412R

c.1236C>A

2 papers

NM_014325.4

p.K418E

c.1252A>G

2 papers

NM_014325.4

p.K419E

c.1255A>G

1 paper

NM_014325.4

p.K403Q

c.1207A>C

1 paper

NM_014325.4

p.K427E

c.1279A>G

2 papers

NM_014325.4

p.K428E

c.1282A>G

1 paper

NM_014325.4

p.E379K

c.1135G>A

1 paper

NM_014325.4

p.A374V

c.1121C>T

1 paper

NM_014325.4

p.L372P

c.1115T>C

1 paper

NM_014325.4

p.A371P

c.1111G>C

1 paper

NM_014325.4

p.T365A

c.1093A>G