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.V244_S245insFs

c.732_733insCA

Surrounding Variants

1 paper

NM_015214.3

p.S243fs

c.727_728fs

3 papers

NM_015214.3

p.R242H

c.725G>A

1 paper

NM_015214.3

p.R242C

c.724C>T

2 papers

NM_015214.3

p.D240N

c.718G>A

1 paper

NM_015214.3

p.N239_D240insFs

c.717_718insAC

1 paper

NM_015214.3

p.V238Splc

c.713-3C>T

5 papers

NM_015214.3

p.F253delFs

c.759delT

3 papers

NM_015214.3

p.F253fs

c.757_758fs

1 paper

NM_015214.3

p.A256S

c.766G>T

1 paper

NM_015214.3

p.A256A

c.768C>G

5 papers

NM_015214.3

p.P269L

c.806C>T

1 paper

NM_015214.3

p.H273R

c.818A>G