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

6 papers

NM_004727.3

p.L587del1

c.1759_1761delCTG

Surrounding Variants

2 papers

NM_004727.3

p.F595L

c.1783T>C

2 papers

NM_004727.3

p.F595L

c.1785C>A

2 papers

NM_004727.3

p.F595L

c.1785C>G

1 paper

NM_004727.3

p.V597V

c.1791G>T

1 paper

NM_004727.3

p.T599A

c.1795A>G

1 paper

NM_004727.3

p.F575_S586del12

c.1723_1757del36

1 paper

NM_004727.3

p.F564_Y565del1

c.1691_1693delTCT

1 paper

NM_004727.3

p.V610G

c.1829T>G

1 paper

NM_004727.3

p.P557R

c.1670C>G

1 paper

NM_004727.3

p.R548fs

c.1642_1643fs

1 paper

NM_004727.3

p.F538fs

c.1612_1613fs

4 papers

NM_004727.3

p.F538fs

c.1612_1613fs