Varaico: Literature-Extracted Genetic Variants

KCND3

318 papers

RefSeq Summary

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotr...

Pfam Domains

Shal-typeaa 3–29UCSCShal-type voltage-gated potassium channels, N-terminal

BTB_2aa 42–131UCSCBTB/POZ domain

Ion_transaa 182–414UCSCIon transport protein

DUF3399aa 468–563UCSCDomain of unknown function (DUF3399)

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily D member 3

HGNC Previous Symbols

SCA22; SCA19

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001378969.1

p.W359G

c.1075T>G

Surrounding Variants

1 paper

NM_001378969.1

p.W359L

c.1076G>T

2 papers

NM_001378969.1

p.S357L

c.1070C>T

2 papers

NM_001378969.1

p.S357W

c.1070C>G

4 papers

NM_001378969.1

p.T361S

c.1081A>T

4 papers

NM_001378969.1

p.T361S

c.1082C>G

5 papers

NM_001378969.1

p.I362M

c.1086T>G

1 paper

NM_001378969.1

p.P355S

c.1063C>T

6 papers

NM_001378969.1

p.M365T

c.1094T>C

2 papers

NM_001378969.1

p.T352A

c.1054A>G

1 paper

NM_001378969.1

p.T366A

c.1096A>G

16 papers

NM_001378969.1

p.T352P

c.1054A>C

1 paper

NM_001378969.1

p.F351L

c.1053C>G