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.T152del1

c.454_456delGGT

Surrounding Variants

1 paper

NM_015213.4

p.H157Y

c.469C>T

1 paper

NM_015213.4

p.S148N

c.443G>A

1 paper

NM_015213.4

p.Q145insFs

c.433dupC

1 paper

NM_015213.4

p.L164L

c.492A>G

1 paper

NM_015213.4

p.H165R

c.494A>G

2 papers

NM_015213.4

p.T136R

c.407C>G

6 papers

NM_015213.4

p.D173fs

c.517_518fs

4 papers

NM_015213.4

p.D173delFs

c.517_518delTC

1 paper

NM_015213.4

p.Q174L

c.521A>T

1 paper

NM_015213.4

p.D126Y

c.376G>T

1 paper

NM_015213.4

p.R124K

c.371G>A

1 paper

NM_015213.4

p.H118N

c.352C>A