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.L139F

c.417A>T

Surrounding Variants

1 paper

NM_020871.4

p.L139F

c.417A>C

1 paper

NM_020871.4

p.T138I

c.413C>T

1 paper

NM_020871.4

p.P150A

c.448C>G

1 paper

NM_020871.4

p.S128S

c.384T>C

2 papers

NM_020871.4

p.L162I

c.484C>A

1 paper

NM_020871.4

p.D117Splc

c.350-2260G>A

1 paper

NM_020871.4

p.D117Splc

c.350-3179C>T

1 paper

NM_020871.4

p.D117Splc

c.350-3382G>T

1 paper

NM_020871.4

p.L176R

c.527T>G

1 paper

NM_020871.4

p.C256S

c.766T>A

1 paper

NM_020871.4

p.C256S

c.767G>C

1 paper

NM_020871.4

p.K258E

c.772A>G