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

1–12 of 211 variants

17 papers

NM_130849.4

p.P200L

c.599C>T

13 papers

NM_130849.4

p.G330D

c.989G>A

13 papers

NM_130849.4

p.G374R

c.1120G>C

13 papers

NM_130849.4

p.G374R

c.1120G>A

12 papers

NM_130849.4

p.G526R

c.1576G>A

11 papers

NM_130849.4

p.R251W

c.751C>T

11 papers

NM_130849.4

p.G526R

c.1576G>C

10 papers

NM_130849.4

p.Q303H

c.909G>T

10 papers

NM_130849.4

p.Q303H

c.909G>C

10 papers

NM_130849.4

p.G630R

c.1888G>C

9 papers

NM_130849.4

p.P84L

c.251C>T

9 papers

NM_130849.4

p.R95C

c.283C>T