Varaico: Literature-Extracted Genetic Variants

CLCN5

288 papers

RefSeq Summary

This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin upt...

Pfam Domains

Voltage_CLCaa 220–620UCSCVoltage gated chloride channel

CBSaa 654–716UCSCCBS domain

CBSaa 749–804UCSCCBS domain

Gene Aliases

HGNC Name

chloride voltage-gated channel 5

HGNC Previous Symbols

NPHL2; NPHL1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 671 variants

18 papers

NM_001127898.4

p.R718*

c.2152C>T

11 papers

NM_000084.5

p.S244L

c.731C>T

9 papers

NM_000084.5

p.R648*

c.1942C>T

8 papers

NM_001127898.4

p.S314L

c.941C>T

8 papers

NM_000084.5

p.R347*

c.1039C>T

7 papers

NM_000084.5

p.R637*

c.1909C>T

6 papers

NM_000084.5

p.R34*

c.100C>T

6 papers

NM_000084.5

p.R467*

c.1399C>T

6 papers

NM_000084.5

p.R516W

c.1546C>T

6 papers

NM_000084.5

p.R704*

c.2110C>T

5 papers

NM_000084.5

p.E211A

c.632A>C

5 papers

NM_000084.5

p.R280P

c.839G>C