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.P44delFs

c.130delC

Surrounding Variants

5 papers

NM_004727.3

p.T37S

c.110C>G

5 papers

NM_004727.3

p.T37S

c.109A>T

1 paper

NM_004727.3

p.L32*

c.95T>A

1 paper

NM_004727.3

p.S55F

c.164C>T

2 papers

NM_004727.3

p.L26F

c.76C>T

1 paper

NM_004727.3

p.L25F

c.73C>T

1 paper

NM_004727.3

p.S64_D66delFs

c.192_196del5

1 paper

NM_004727.3

p.R65W

c.193C>T

1 paper

NM_004727.3

p.L14*

c.41T>A

1 paper

NM_004727.3

p.L14*

c.41T>G

1 paper

NM_004727.3

p.M73I

c.219G>A

1 paper

NM_004727.3

p.M73I

c.219G>C