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

1 paper

NM_130849.4

p.A569A

c.1707C>T

Surrounding Variants

1 paper

NM_130849.4

p.A566T

c.1696G>A

1 paper

NM_130849.4

p.L573L

c.1719C>G

1 paper

NM_130849.4

p.S565F

c.1694C>T

1 paper

NM_130849.4

p.L561M

c.1681C>A

1 paper

NM_130849.4

p.E584A

c.1751A>C

1 paper

NM_130849.4

p.L553L

c.1659G>C

1 paper

NM_017767.3

p.A526T

c.1576G>A

2 papers

NM_130849.4

p.L549_H550del1

c.1646_1648delGCA

2 papers

NM_130849.4

p.T594T

c.1782C>T

4 papers

NM_130849.4

p.G595V

c.1784G>T

1 paper

NM_130849.4

p.L602L

c.1806C>A

1 paper

NM_130849.4

p.D604A

c.1811A>C