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.R668C

c.2002C>T

Surrounding Variants

1 paper

NM_004727.3

p.L674V

c.2020C>G

2 papers

NM_004727.3

p.S659L

c.1976C>T

1 paper

NM_004727.3

p.D680Y

c.2038G>T

4 papers

NM_004727.3

p.R655*

c.1963C>T

1 paper

NM_004727.3

p.P650S

c.1948C>T

1 paper

NM_004727.3

p.D633N

c.1897G>A

1 paper

NM_004727.3

p.K630_P631Splc

c.1891-3C>T

1 paper

NM_004727.3

p.V685Splc

c.2054-1313T>G

1 paper

NM_004727.3

p.V685Splc

c.2054-9C>T

1 paper

NM_004727.3

p.K691del1

c.2071_2073delAAG

1 paper

NM_004727.3

p.N697_G699del3

c.2089_2096del9

1 paper

NM_004727.3

p.E714Splc

c.2141-62C>G