Varaico: Literature-Extracted Genetic Variants

DENND1C

58 papers

RefSeq Summary

The protein encoded by this gene functions as a guanine nucleotide exchange factor for the early endosomal small GTPase RAB35, which regulates endosomal membrane trafficking and is involved in actin p...

Pfam Domains

uDENNaa 29–87UCSCuDENN domain

DENNaa 90–293UCSCDENN (AEX-3) domain

dDENNaa 357–408UCSCdDENN domain

Gene Aliases

HGNC Name

DENN domain containing 1C

HGNC Previous Symbol

FAM31C

Papers

RefSeq ID

Protein change

DNA change

1–12 of 77 variants

4 papers

NM_024898.4

p.P164fs

c.490_491fs

3 papers

NM_024898.4

p.P164delFs

c.491delG

2 papers

NM_024898.4

p.T154K

c.461C>A

2 papers

NM_024898.4

p.R496H

c.1487G>A

2 papers

NM_024898.4

p.R515H

c.1544G>A

2 papers

NM_024898.4

p.T652M

c.1955C>T

2 papers

NM_024898.4

p.K671E

c.2011A>G

2 papers

NM_024898.4

p.L755delFs

c.2263delG

1 paper

NM_024898.4

p.E6Splc

c.18-3C>A

1 paper

NM_024898.4

p.D14fs

c.40_41fs

1 paper

NM_024898.4

p.D14_W15delFs

c.41_44del4

1 paper

NM_024898.4

p.S24S

c.72C>T