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.E776Q

c.2326G>C

Surrounding Variants

1 paper

NM_004727.3

p.E762K

c.2284G>A

1 paper

NM_004727.3

p.G758R

c.2272G>C

2 papers

NM_004727.3

p.G754_E755del2

c.2260_2264del6

1 paper

NM_004727.3

p.E801K

c.2401G>A

1 paper

NM_004727.3

p.E801*

c.2401G>T

1 paper

NM_004727.3

p.E817insFs

c.2451dupA

2 papers

NM_004727.3

p.G823_N824del2

c.2467_2471del6

1 paper

NM_004727.3

p.A841D

c.2522C>A

1 paper

NM_004727.3

p.S854_E863del0

c.2560_2589del30

1 paper

NM_004727.3

p.E863del1

c.2587_2588delGAA

1 paper

NM_004727.3

p.E865_Q869del0

c.2594_2605del12

1 paper

NM_004727.3

p.E868E

c.2604G>A