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.I501V

c.1501A>G

Surrounding Variants

1 paper

NM_015214.3

p.I501T

c.1502T>C

4 papers

NM_015214.3

p.F502S

c.1505T>C

1 paper

NM_015214.3

p.P499S

c.1495C>T

1 paper

NM_015214.3

p.L495_I496insFs

c.1485_1486insGG

1 paper

NM_015214.3

p.S507A

c.1519T>G

1 paper

NM_015214.3

p.R494W

c.1480C>T

1 paper

NM_015214.3

p.P493S

c.1477C>T

1 paper

NM_015214.3

p.G510delFs

c.1528_1529delGG

1 paper

NM_015214.3

p.G510E

c.1529G>A

1 paper

NM_015214.3

p.L513F

c.1537C>T

9 papers

NM_015214.3

p.R516*

c.1546C>T

1 paper

NM_015214.3

p.R516Q

c.1547G>A