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.L378V

c.1132C>G

Surrounding Variants

1 paper

NM_130849.4

p.L378delFs

c.1132delG

2 papers

NM_130849.4

p.H379P

c.1136A>C

1 paper

NM_130849.4

p.A376T

c.1126G>A

1 paper

NM_130849.4

p.D375A

c.1124A>C

2 papers

NM_130849.4

p.T381fs

c.1141_1142fs

3 papers

NM_130849.4

p.T381A

c.1141A>G

2 papers

NM_130849.4

p.V377_L380insFs

c.1130_1140dup11

1 paper

NM_130849.4

p.T381T

c.1143G>A

13 papers

NM_130849.4

p.G374R

c.1120G>C

13 papers

NM_130849.4

p.G374R

c.1120G>A

4 papers

NM_130849.4

p.V372G

c.1115T>G

2 papers

NM_130849.4

p.V372A

c.1115T>C