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

23 papers

NM_015214.3

p.D660H

c.1978G>C

Surrounding Variants

5 papers

NM_015214.3

p.Y661delFs

c.1982_1983delAT

1 paper

NM_015214.3

p.Y661fs

c.1981_1982fs

5 papers

NM_015214.3

p.Y661fs

c.1981_1982fs

1 paper

NM_015214.3

p.Y661C

c.1982A>G

1 paper

NM_015214.3

p.R658H

c.1973G>A

1 paper

NM_015214.3

p.R658P

c.1973G>C

1 paper

NM_015214.3

p.N654S

c.1961A>G

1 paper

NM_015214.3

p.G651R

c.1951G>A

1 paper

NM_015214.3

p.E669fs

c.2005_2006fs

1 paper

NM_015214.3

p.N649S

c.1946A>G

1 paper

NM_015214.3

p.N672S

c.2015A>G

1 paper

NM_015214.3

p.V641G

c.1922T>G