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

7 papers

NM_015214.3

p.S447*

c.1340C>G

Surrounding Variants

7 papers

NM_015214.3

p.S447*

c.1340C>A

1 paper

NM_015214.3

p.S447fs

c.1339_1340fs

1 paper

NM_015214.3

p.M448insFs

c.1343dupT

4 papers

NM_015214.3

p.K445_S447Fs

c.1335_1340delinsAFs

1 paper

NM_015214.3

p.K436Q

c.1306A>C

1 paper

NM_015214.3

p.K435N

c.1305G>C

1 paper

NM_015214.3

p.K435N

c.1305G>T

1 paper

NM_015214.3

p.R422*

c.1264C>T

2 papers

NM_015214.3

p.A417fs

c.1249_1250fs

1 paper

NM_015214.3

p.I405_E407delFs

c.1215_1219del5

2 papers

NM_015214.3

p.I405V

c.1213A>G

1 paper

NM_015214.3

p.L399_D404del6

c.1195_1211del18