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_017767.3

p.A73A

c.219C>T

Surrounding Variants

8 papers

NM_130849.4

p.A99T

c.295G>A

1 paper

NM_130849.4

p.A99V

c.296C>T

1 paper

NM_130849.4

p.A100A

c.300C>G

1 paper

NM_130849.4

p.V101D

c.302T>A

9 papers

NM_130849.4

p.R95C

c.283C>T

1 paper

NM_130849.4

p.Y103Y

c.309C>T

1 paper

NM_130849.4

p.Y92*

c.276C>G

1 paper

NM_130849.4

p.Y92*

c.276C>A

1 paper

NM_130849.4

p.S105R

c.313A>C

1 paper

NM_130849.4

p.S105R

c.315C>G

1 paper

NM_130849.4

p.S105R

c.315C>A

8 papers

NM_130849.4

p.N106K

c.318C>G