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.D372_S373insT

c.1114_1118ins3

Surrounding Variants

1 paper

NM_015214.3

p.D370Y

c.1108G>T

1 paper

NM_015214.3

p.G369_D370delFs

c.1106_1110del5

6 papers

NM_015214.3

p.K375_D376Splc

c.1125+1G>T

1 paper

NM_015214.3

p.Q364E

c.1090C>G

2 papers

NM_015214.3

p.L361L

c.1081C>T

1 paper

NM_015214.3

p.L361_T362delFs

c.1082_1085del4

2 papers

NM_015214.3

p.I360delFs

c.1078delA

1 paper

NM_015214.3

p.F358C

c.1073T>G

1 paper

NM_015214.3

p.S354L

c.1061C>T

6 papers

NM_015214.3

p.G353Splc

c.1057+5C>G

1 paper

NM_015214.3

p.G353S

c.1057G>A

1 paper

NM_015214.3

p.G353R

c.1057G>C