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.I698I

c.2094C>A

Surrounding Variants

1 paper

NM_015214.3

p.I698S

c.2093T>G

5 papers

NM_015214.3

p.Y699C

c.2096A>G

1 paper

NM_015214.3

p.Q708*

c.2122C>T

1 paper

NM_015214.3

p.D689Y

c.2065G>T

1 paper

NM_015214.3

p.E688*

c.2062G>T

1 paper

NM_015214.3

p.E686G

c.2057A>G

5 papers

NM_015214.3

p.E686delFs

c.2057delA

7 papers

NM_015214.3

p.E686fs

c.2056_2057fs

3 papers

NM_015214.3

p.C683S

c.2048G>C

3 papers

NM_015214.3

p.C683S

c.2047T>A

1 paper

NM_015214.3

p.L682L

c.2044C>T

1 paper

NM_015214.3

p.H681N

c.2041C>A