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.I405_E407delFs

c.1215_1219del5

Surrounding Variants

2 papers

NM_015214.3

p.I405V

c.1213A>G

1 paper

NM_015214.3

p.L399_D404del6

c.1195_1211del18

1 paper

NM_015214.3

p.E392_D393insA

c.1174_1178ins3

1 paper

NM_015214.3

p.L390_E391ins4

c.1168_1172ins12

1 paper

NM_015214.3

p.P388S

c.1162C>T

1 paper

NM_015214.3

p.L378Q

c.1133T>A

1 paper

NM_015214.3

p.S377L

c.1130C>T

1 paper

NM_015214.3

p.D376G

c.1127A>G

1 paper

NM_015214.3

p.D376_S377del1

c.1128_1130delTTC

1 paper

NM_015214.3

p.S377_L378delFs

c.1129_1133del5

6 papers

NM_015214.3

p.K375_D376Splc

c.1125+1G>T

1 paper

NM_015214.3

p.D372_S373insT

c.1114_1118ins3