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

13 papers

NM_130849.4

p.G330D

c.989G>A

Surrounding Variants

1 paper

NM_130849.4

p.Y329*

c.987C>G

1 paper

NM_130849.4

p.R326R

c.978G>A

1 paper

NM_130849.4

p.C340*

c.1020C>A

1 paper

NM_130849.4

p.L347V

c.1039C>G

1 paper

NM_130849.4

p.G355R

c.1063G>A

1 paper

NM_130849.4

p.V356fs

c.1066_1067fs

5 papers

NM_130849.4

p.T357A

c.1069A>G

2 papers

NM_130849.4

p.G370_A371insFs

c.1110_1111insG

2 papers

NM_130849.4

p.V372L

c.1114G>C

4 papers

NM_130849.4

p.V372G

c.1115T>G

2 papers

NM_130849.4

p.V372A

c.1115T>C

13 papers

NM_130849.4

p.G374R

c.1120G>C