Varaico: Literature-Extracted Genetic Variants

SLC39A4

149 papers

RefSeq Summary

This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations...

Pfam Domains

ZIP4_domainaa 46–196UCSCZinc transporter ZIP4 domain

EF-hand_Zipaa 202–308UCSCZip protein EF-hand

Zipaa 325–639UCSCZIP Zinc transporter

Gene Aliases

HGNC Name

solute carrier family 39 member 4

HGNC Previous Symbol

AEZ

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_130849.4

p.Q320*

c.958C>T

Surrounding Variants

1 paper

NM_130849.4

p.Q318*

c.952C>T

1 paper

NM_130849.4

p.V317A

c.950T>C

1 paper

NM_130849.4

p.P316insFs

c.948dupC

1 paper

NM_130849.4

p.V317I

c.949G>A

1 paper

NM_130849.4

p.P316delFs

c.948delG

1 paper

NM_130849.4

p.V317fs

c.949_950fs

1 paper

NM_130849.4

p.P316P

c.948C>T

2 papers

NM_130849.4

p.Q323_S324delFs

c.968_971del4

2 papers

NM_130849.4

p.R326Splc

c.976+2T>A

3 papers

NM_130849.4

p.C309F

c.926G>T

8 papers

NM_130849.4

p.C309Y

c.926G>A

1 paper

NM_130849.4

p.C309R

c.925T>C