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.V217A

c.650T>C

Surrounding Variants

2 papers

NM_130849.4

p.P218R

c.653C>G

2 papers

NM_130849.4

p.S214insFs

c.641_642ins10

6 papers

NM_130849.4

p.Q211*

c.631C>T

1 paper

NM_130849.4

p.P202A

c.604C>G

17 papers

NM_130849.4

p.P200L

c.599C>T

1 paper

NM_130849.4

p.A198V

c.593C>T

1 paper

NM_130849.4

p.A198T

c.592G>A

1 paper

NM_130849.4

p.H189L

c.566A>T

2 papers

NM_130849.4

p.G181_A184insFs

c.541_551dup11

1 paper

NM_130849.4

p.A175V

c.524C>T

1 paper

NM_130849.4

p.G174_A175insFs

c.522_523dupGG

1 paper

NM_130849.4

p.A175fs

c.523_524fs