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

1–12 of 46 variants

2 papers

NM_021633.4

p.V50A

c.149T>C

2 papers

NM_021633.4

p.L227P

c.680T>C

2 papers

NM_021633.4

p.R230G

c.688A>G

2 papers

NM_021633.4

p.G336S

c.1006G>A

2 papers

NM_021633.4

p.Q405*

c.1213C>T

2 papers

NM_021633.4

p.Y493H

c.1477T>C

2 papers

NM_021633.4

p.S546R

c.1636A>C

2 papers

NM_021633.4

p.S546R

c.1638C>G

2 papers

NM_021633.4

p.S546R

c.1638C>A

1 paper

NM_021633.4

p.L37L

c.109T>C

1 paper

NM_021633.4

p.K42N

c.126A>T

1 paper

NM_021633.4

p.K42N

c.126A>C