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

1 paper

NM_015213.4

p.L655*

c.1964T>A

Surrounding Variants

1 paper

NM_015213.4

p.L655*

c.1964T>G

1 paper

NM_015213.4

p.K664insFs

c.1990_1991insT

1 paper

NM_015213.4

p.I646V

c.1936A>G

1 paper

NM_015213.4

p.R642H

c.1925G>A

1 paper

NM_015213.4

p.R642C

c.1924C>T

1 paper

NM_015213.4

p.E636Splc

c.1907-7C>T

1 paper

NM_015213.4

p.P671_G681del11

c.2011_2042del33

1 paper

NM_015213.4

p.S684R

c.2050A>C

1 paper

NM_015213.4

p.S684R

c.2052C>G

1 paper

NM_015213.4

p.S684R

c.2052C>A

1 paper

NM_015213.4

p.E636Splc

c.1907-201G>A

1 paper

NM_015213.4

p.T688S

c.2062A>T