Varaico: Literature-Extracted Genetic Variants

DENND5A

100 papers

RefSeq Summary

This gene encodes a DENN-domain-containing protein that functions as a RAB-activating guanine nucleotide exchange factor (GEF). This protein catalyzes the conversion of GDP to GTP and thereby converts...

Pfam Domains

uDENNaa 51–113UCSCuDENN domain

DENNaa 178–366UCSCDENN (AEX-3) domain

dDENNaa 531–583UCSCdDENN domain

RUNaa 771–921UCSCRUN domain

PLATaa 932–1038UCSCPLAT/LH2 domain

RUNaa 1118–1257UCSCRUN domain

Gene Aliases

HGNC Name

DENN domain containing 5A

HGNC Previous Symbol

RAB6IP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_015213.4

p.V1202fs

c.3604_3605fs

Surrounding Variants

3 papers

NM_015213.4

p.V1202delFs

c.3605delA

1 paper

NM_015213.4

p.N1207Y

c.3619A>T

1 paper

NM_015213.4

p.N1207N

c.3621T>C

1 paper

NM_015213.4

p.R1196W

c.3586C>T

1 paper

NM_015213.4

p.R1210Q

c.3629G>A

1 paper

NM_015213.4

p.R1210fs

c.3628_3629fs

1 paper

NM_015213.4

p.I1212I

c.3636C>A

3 papers

NM_015213.4

p.G1216D

c.3647G>A

1 paper

NM_015213.4

p.V1164I

c.3490G>A

2 papers

NM_015213.4

p.R1159W

c.3475C>T

1 paper

NM_015213.4

p.T1134M

c.3401C>T

1 paper

NM_015213.4

p.E1129_R1130Splc

c.3387+3G>T