Varaico: Literature-Extracted Genetic Variants

DDHD2

212 papers

RefSeq Summary

This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi ...

Pfam Domains

WWEaa 42–112UCSCWWE domain

WWE_3aa 117–200UCSCWWE domain

SAM_1aa 383–445UCSCSAM domain (Sterile alpha motif)

DDHDaa 495–699UCSCDDHD domain

Gene Aliases

HGNC Name

DDHD domain containing 2

HGNC Previous Symbol

SAMWD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015214.3

p.A176_G177delFs

c.527_531del5

Surrounding Variants

1 paper

NM_015214.3

p.A176T

c.526G>A

1 paper

NM_015214.3

p.P174A

c.520C>G

1 paper

NM_015214.3

p.S178_Q188del0

c.533_562del30

1 paper

NM_015214.3

p.D179A

c.536A>C

1 paper

NM_015214.3

p.T184A

c.550A>G

1 paper

NM_015214.3

p.T186A

c.556A>G

9 papers

NM_015214.3

p.T186M

c.557C>T

1 paper

NM_015214.3

p.T186_E187insFs

c.558_559insT

1 paper

NM_015214.3

p.G189delFs

c.566delG

1 paper

NM_015214.3

p.T193_R196delFs

c.577_586del10

1 paper

NM_015214.3

p.R192K

c.575G>A

1 paper

NM_015214.3

p.V194V

c.582G>A