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

1 paper

NM_001378969.1

p.F351L

c.1053C>G

Surrounding Variants

1 paper

NM_001378969.1

p.F351L

c.1053C>A

2 papers

NM_001378969.1

p.T352A

c.1054A>G

16 papers

NM_001378969.1

p.T352P

c.1054A>C

1 paper

NM_001378969.1

p.F351L

c.1051T>C

1 paper

NM_001378969.1

p.P355S

c.1063C>T

5 papers

NM_001378969.1

p.S347W

c.1040C>G

2 papers

NM_001378969.1

p.S346F

c.1037C>T

2 papers

NM_001378969.1

p.S357L

c.1070C>T

2 papers

NM_001378969.1

p.S357W

c.1070C>G

16 papers

NM_001378969.1

p.G345V

c.1034G>T

4 papers

NM_001378969.1

p.W359G

c.1075T>G

1 paper

NM_001378969.1

p.W359L

c.1076G>T