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

1–12 of 172 variants

6 papers

NM_004727.3

p.F538delFs

c.1613_1614delTT

6 papers

NM_004727.3

p.L587del1

c.1759_1761delCTG

5 papers

NM_004727.3

p.T37S

c.109A>T

5 papers

NM_004727.3

p.T37S

c.110C>G

4 papers

NM_004727.3

p.F538fs

c.1612_1613fs

4 papers

NM_004727.3

p.R655*

c.1963C>T

3 papers

NM_004727.3

p.V311L

c.931G>C

3 papers

NM_004727.3

p.E886del1

c.2656_2657delGAG

2 papers

NM_004727.3

p.L26F

c.76C>T

2 papers

NM_004727.3

p.R196delFs

c.587delG

2 papers

NM_004727.3

p.M252delFs

c.754_755delAT

2 papers

NM_004727.3

p.V275delFs

c.823_824delGT