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.G57S

c.169G>A

Surrounding Variants

1 paper

NM_020871.4

p.P59L

c.176C>T

1 paper

NM_020871.4

p.P59P

c.177G>A

1 paper

NM_020871.4

p.G44del1

c.130_131delCCC

1 paper

NM_020871.4

p.G39del1

c.115_117delGCC