Varaico: Literature-Extracted Genetic Variants

KLHL12

52 papers

RefSeq Summary

This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren's syndrome and as a potential biomarker in ...

Pfam Domains

Kelch_KLHDC2_KLHL20_DRC7aa 12–201UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

BTBaa 23–130UCSCBTB/POZ domain

BACKaa 135–237UCSCBTB And C-terminal Kelch

Kelch_1aa 279–316UCSCKelch motif

Gene Aliases

HGNC Name

kelch like family member 12

HGNC Alias Symbol

C3IP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_021633.4

p.R230G

c.688A>G

Surrounding Variants

2 papers

NM_021633.4

p.L227P

c.680T>C

1 paper

NM_021633.4

p.R223Q

c.668G>A

1 paper

NM_021633.4

p.V204M

c.610G>A

1 paper

NM_021633.4

p.V196I

c.586G>A

1 paper

NM_021633.4

p.S175T

c.524G>C

1 paper

NM_021633.4

p.D140N

c.418G>A

1 paper

NM_021633.4

p.C111S

c.332G>C

1 paper

NM_021633.4

p.C111S

c.331T>A

1 paper

NM_021633.4

p.L87F

c.261A>T

1 paper

NM_021633.4

p.L87F

c.261A>C

1 paper

NM_021633.4

p.E68A

c.203A>C

1 paper

NM_021633.4

p.S67A

c.199T>G