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

1–12 of 235 variants

23 papers

NM_015214.3

p.D660H

c.1978G>C

12 papers

NM_015214.3

p.R287*

c.859C>T

11 papers

NM_015214.3

p.W103R

c.307T>A

11 papers

NM_015214.3

p.W103R

c.307T>C

10 papers

NM_015214.3

p.V220F

c.658G>T

9 papers

NM_015214.3

p.T186M

c.557C>T

9 papers

NM_015214.3

p.R516*

c.1546C>T

7 papers

NM_015214.3

p.S447*

c.1340C>A

7 papers

NM_015214.3

p.S447*

c.1340C>G

7 papers

NM_015214.3

p.T602fs

c.1804_1805fs

7 papers

NM_015214.3

p.E686fs

c.2056_2057fs

6 papers

NM_015214.3

p.R112*

c.334C>T