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

2 papers

NM_015214.3

p.T114insFs

c.340dupA

Surrounding Variants

3 papers

NM_015214.3

p.T114ins0

c.340_342dupACG

1 paper

NM_015214.3

p.T114ins1

c.340_341insACG

3 papers

NM_015214.3

p.T114fs

c.340_341fs

1 paper

NM_015214.3

p.C113Y

c.338G>A

2 papers

NM_015214.3

p.T114insFs

c.341_342insA

5 papers

NM_015214.3

p.R112Q

c.335G>A

6 papers

NM_015214.3

p.R112*

c.334C>T

1 paper

NM_015214.3

p.F116V

c.346T>G

1 paper

NM_015214.3

p.D120insFs

c.360dupC

11 papers

NM_015214.3

p.W103R

c.307T>A

11 papers

NM_015214.3

p.W103R

c.307T>C

2 papers

NM_015214.3

p.K124_Y125insFs

c.372_373insT