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.T314delFs

c.942delC

Surrounding Variants

1 paper

NM_015214.3

p.V307I

c.919G>A

1 paper

NM_015214.3

p.V323V

c.969T>A

1 paper

NM_015214.3

p.T300I

c.899C>T

4 papers

NM_015214.3

p.R329*

c.985C>T

1 paper

NM_015214.3

p.I330V

c.988A>G

1 paper

NM_015214.3

p.Y331Y

c.993C>T

1 paper

NM_015214.3

p.R295C

c.883C>T

1 paper

NM_015214.3

p.P339_D340insACG

c.1015_1019ins9

2 papers

NM_015214.3

p.P339S

c.1015C>T

1 paper

NM_015214.3

p.I288I

c.864A>C

12 papers

NM_015214.3

p.R287*

c.859C>T

3 papers

NM_015214.3

p.Q286*

c.856C>T