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.M403V

c.1207A>G

Surrounding Variants

1 paper

NM_004727.3

p.C394S

c.1181G>C

1 paper

NM_004727.3

p.C394S

c.1180T>A

1 paper

NM_004727.3

p.R384_L387del4

c.1150_1160del12

1 paper

NM_004727.3

p.V426A

c.1277T>C

1 paper

NM_004727.3

p.T379S

c.1135A>T

1 paper

NM_004727.3

p.S378fs

c.1132_1133fs

2 papers

NM_004727.3

p.S378delFs

c.1132_1133delTC

1 paper

NM_004727.3

p.P429L

c.1286C>T

1 paper

NM_004727.3

p.A374A

c.1122A>C

1 paper

NM_004727.3

p.P442insFs

c.1325dupC

1 paper

NM_004727.3

p.D443fs

c.1327_1328fs

1 paper

NM_004727.3

p.R351W

c.1051A>T