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.T602fs

c.1804_1805fs

Surrounding Variants

3 papers

NM_015214.3

p.T602insFs

c.1804_1805insT

1 paper

NM_015214.3

p.T602I

c.1805C>T

3 papers

NM_015214.3

p.F601insFs

c.1803dupT

1 paper

NM_015214.3

p.Y606*

c.1818C>A

1 paper

NM_015214.3

p.Y606*

c.1818C>G

1 paper

NM_015214.3

p.L590S

c.1769T>C

1 paper

NM_015214.3

p.T614I

c.1841C>T

1 paper

NM_015214.3

p.P615_E616delFs

c.1845_1848del4

1 paper

NM_015214.3

p.T618_E619del2

c.1852_1856del6

1 paper

NM_015214.3

p.D585_L586delFs

c.1755_1758del4

1 paper

NM_015214.3

p.E619G

c.1856A>G

1 paper

NM_015214.3

p.E577delFs

c.1730delA