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.F538delFs

c.1613_1614delTT

Surrounding Variants

1 paper

NM_004727.3

p.F538fs

c.1612_1613fs

1 paper

NM_004727.3

p.L537delFs

c.1611delC

4 papers

NM_004727.3

p.F538fs

c.1612_1613fs

1 paper

NM_004727.3

p.R548fs

c.1642_1643fs

1 paper

NM_004727.3

p.T527I

c.1580C>T

1 paper

NM_004727.3

p.S521N

c.1562G>A

1 paper

NM_004727.3

p.P557R

c.1670C>G

1 paper

NM_004727.3

p.G515S

c.1543G>A

1 paper

NM_004727.3

p.I514T

c.1541T>C

1 paper

NM_004727.3

p.L513P

c.1538T>C

1 paper

NM_004727.3

p.S512F

c.1535C>T

1 paper

NM_004727.3

p.F564_Y565del1

c.1691_1693delTCT