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.D240N

c.718G>A

Surrounding Variants

1 paper

NM_130849.4

p.S242fs

c.724_725fs

1 paper

NM_130849.4

p.S242insFs

c.725dupG

1 paper

NM_130849.4

p.H243D

c.727C>G

1 paper

NM_130849.4

p.E236*

c.706G>T

11 papers

NM_130849.4

p.R251W

c.751C>T

1 paper

NM_130849.4

p.A226T

c.676G>A

1 paper

NM_017767.3

p.S200L

c.599C>T

1 paper

NM_130849.4

p.L224L

c.670C>T

2 papers

NM_130849.4

p.L256delFs

c.766delG

1 paper

NM_130849.4

p.W266*

c.797G>A

1 paper

NM_130849.4

p.W266*

c.798G>A

1 paper

NM_130849.4

p.S272I

c.815G>T