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.R1059W

c.3175C>T

Surrounding Variants

1 paper

NM_015213.4

p.L1048F

c.3144A>T

1 paper

NM_015213.4

p.L1048F

c.3144A>C

2 papers

NM_015213.4

p.E1071Q

c.3211G>C

1 paper

NM_015213.4

p.D1073delFs

c.3218_3219delAT

1 paper

NM_015213.4

p.R1078Q

c.3233G>A

1 paper

NM_015213.4

p.I1089V

c.3265A>G

1 paper

NM_015213.4

p.P1097S

c.3289C>T

1 paper

NM_015213.4

p.K1102fs

c.3304_3305fs

3 papers

NM_015213.4

p.T1039N

c.3116C>A

3 papers

NM_015213.4

p.R1032T

c.3095G>C

1 paper

NM_015213.4

p.V1031F

c.3091G>T

1 paper

NM_015213.4

p.E1129_R1130Splc

c.3387+3G>T