Varaico: Literature-Extracted Genetic Variants

SLC24A1

137 papers

RefSeq Summary

This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photorecep...

Pfam Domains

Na_Ca_exaa 458–602UCSCSodium/calcium exchanger protein

Na_Ca_exaa 918–1011UCSCSodium/calcium exchanger protein

Na_Ca_exaa 936–1087UCSCSodium/calcium exchanger protein

Gene Aliases

HGNC Name

solute carrier family 24 member 1

HGNC Alias Symbols

NCKX1; NCKX; RODX; KIAA0702; HsT17412; CSNB1D

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004727.3

p.V275delFs

c.823_824delGT

Surrounding Variants

2 papers

NM_004727.3

p.V275fs

c.823_824fs

1 paper

NM_004727.3

p.E277*

c.829G>T

1 paper

NM_004727.3

p.N279delFs

c.836delA

1 paper

NM_004727.3

p.V268A

c.803T>C

1 paper

NM_004727.3

p.P283delFs

c.847delC

1 paper

NM_004727.3

p.P283fs

c.847_848fs

1 paper

NM_004727.3

p.P283L

c.848C>T

1 paper

NM_004727.3

p.P284S

c.850C>T

1 paper

NM_004727.3

p.H262H

c.786T>C

1 paper

NM_004727.3

p.P295L

c.884C>T

1 paper

NM_004727.3

p.M252fs

c.754_755fs

2 papers

NM_004727.3

p.M252delFs

c.754_755delAT