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.G174_A175insFs

c.522_523dupGG

Surrounding Variants

1 paper

NM_130849.4

p.A175V

c.524C>T

1 paper

NM_130849.4

p.A175fs

c.523_524fs

1 paper

NM_130849.4

p.A173V

c.518C>T

1 paper

NM_130849.4

p.A173T

c.517G>A

2 papers

NM_130849.4

p.V171L

c.511G>T

2 papers

NM_130849.4

p.V171L

c.511G>C

1 paper

NM_130849.4

p.E168G

c.503A>G

2 papers

NM_130849.4

p.G181_A184insFs

c.541_551dup11

1 paper

NM_130849.4

p.V161A

c.482T>C

1 paper

NM_130849.4

p.H189L

c.566A>T

4 papers

NM_130849.4

p.M158_A159Splc

c.475-2A>G

1 paper

NM_130849.4

p.A198T

c.592G>A