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.Y128F

c.383A>T

Surrounding Variants

1 paper

NM_015214.3

p.E130A

c.389A>C

1 paper

NM_015214.3

p.E130_S131insFs

c.390_391ins4

1 paper

NM_015214.3

p.S131insFs

c.392_393insA

2 papers

NM_015214.3

p.K124_Y125insFs

c.372_373insT

1 paper

NM_015214.3

p.S133_V135del0

c.399_404del6

5 papers

NM_015214.3

p.Q134*

c.400C>T

1 paper

NM_015214.3

p.D120insFs

c.360dupC

1 paper

NM_015214.3

p.F116V

c.346T>G

2 papers

NM_015214.3

p.T114insFs

c.341_342insA

1 paper

NM_015214.3

p.T114ins1

c.340_341insACG

3 papers

NM_015214.3

p.T114fs

c.340_341fs

2 papers

NM_015214.3

p.T114insFs

c.340dupA