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.L91P

c.272T>C

Surrounding Variants

1 paper

NM_004727.3

p.M86insFs

c.258dupG

1 paper

NM_004727.3

p.M86fs

c.256_257fs

1 paper

NM_004727.3

p.G98S

c.292G>A

1 paper

NM_004727.3

p.E101V

c.302A>T

1 paper

NM_004727.3

p.M106_I111del6

c.316_332del18

1 paper

NM_004727.3

p.S76del1

c.226_228delAGC

1 paper

NM_004727.3

p.M73I

c.219G>A

1 paper

NM_004727.3

p.M73I

c.219G>C

1 paper

NM_004727.3

p.M73I

c.219G>T

1 paper

NM_004727.3

p.P115H

c.344C>A

1 paper

NM_004727.3

p.R117K

c.350G>A

1 paper

NM_004727.3

p.R65W

c.193C>T