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

1 paper

NM_004727.3

p.Y229*

c.687T>A

Surrounding Variants

1 paper

NM_004727.3

p.Y229*

c.687T>G

1 paper

NM_004727.3

p.E233del1

c.697_698delGAA

1 paper

NM_004727.3

p.E233K

c.697G>A

1 paper

NM_004727.3

p.D222delFs

c.666delC

1 paper

NM_004727.3

p.K221E

c.661A>G

1 paper

NM_004727.3

p.P216S

c.646C>T

1 paper

NM_004727.3

p.I214V

c.640A>G

1 paper

NM_004727.3

p.A213A

c.639G>A

1 paper

NM_004727.3

p.G251A

c.752G>C

2 papers

NM_004727.3

p.M252delFs

c.754_755delAT

1 paper

NM_004727.3

p.M252fs

c.754_755fs

1 paper

NM_004727.3

p.P202Q

c.605C>A