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

4 papers

NM_015214.3

p.Y99*

c.297T>A

Surrounding Variants

3 papers

NM_015214.3

p.Y99*

c.297T>G

1 paper

NM_015214.3

p.V101_Y102del2

c.301_305del6

3 papers

NM_015214.3

p.R98W

c.292C>T

1 paper

NM_015214.3

p.M97T

c.290T>C

11 papers

NM_015214.3

p.W103R

c.307T>A

11 papers

NM_015214.3

p.W103R

c.307T>C

1 paper

NM_015214.3

p.G94W

c.280G>T

1 paper

NM_015214.3

p.H92N

c.274C>A

1 paper

NM_015214.3

p.Y89S

c.266A>C

6 papers

NM_015214.3

p.R112*

c.334C>T

5 papers

NM_015214.3

p.R112Q

c.335G>A

1 paper

NM_015214.3

p.G87_R88insA

c.259_263ins3