Varaico: Literature-Extracted Genetic Variants

LRCH2

55 papers

RefSeq Summary

This gene encodes a member of the leucine-rich repeat and calponin homology domain-containing protein family. These family members contain multiple N-terminal leucine-rich repeats, in addition to a C-...

Pfam Domains

LRR_8aa 116–169UCSCLeucine rich repeat

LRR_8aa 180–237UCSCLeucine rich repeat

LRR_8aa 225–282UCSCLeucine rich repeat

CHaa 643–756UCSCCalponin homology (CH) domain

Gene Aliases

HGNC Name

leucine rich repeats and calponin homology domain containing 2

HGNC Alias Symbol

KIAA1495

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020871.4

p.E508Q

c.1522G>C

Surrounding Variants

3 papers

NM_020871.4

p.D536N

c.1606G>A

3 papers

NM_020871.4

p.R555Q

c.1664G>A

1 paper

NM_020871.4

p.E562*

c.1684G>T

1 paper

NM_020871.4

p.D464E

c.1392T>G

1 paper

NM_020871.4

p.D464E

c.1392T>A

1 paper

NM_020871.4

p.K455E

c.1363A>G

1 paper

NM_020871.4

p.R452K

c.1355G>A

1 paper

NM_020871.4

p.R452K

c.1355G>A

2 papers

NM_020871.4

p.E418D

c.1254A>T

2 papers

NM_020871.4

p.E418D

c.1254A>C