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

6 papers

NM_015213.4

p.D541G

c.1622A>G

Surrounding Variants

1 paper

NM_015213.4

p.Q537Q

c.1611A>G

1 paper

NM_015213.4

p.A521T

c.1561G>A

2 papers

NM_015213.4

p.R517W

c.1549C>T

2 papers

NM_015213.4

p.D497E

c.1491T>G

2 papers

NM_015213.4

p.D497E

c.1491T>A

1 paper

NM_015213.4

p.N495N

c.1485T>C

1 paper

NM_015213.4

p.P565P

c.1695T>G

1 paper

NM_015213.4

p.L572insFs

c.1715_1716insCA

1 paper

NM_015213.4

p.M580T

c.1739T>C

1 paper

NM_015213.4

p.I585T

c.1754T>C

1 paper

NM_015213.4

p.N587fs

c.1759_1760fs

1 paper

NM_015213.4

p.N587delFs

c.1761delG