Varaico: Literature-Extracted Genetic Variants

LRIT3

62 papers

RefSeq Summary

This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. Th...

Pfam Domains

LRR_8aa 59–117UCSCLeucine rich repeat

LRR_8aa 129–181UCSCLeucine rich repeat

Ig_3aa 253–332UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

leucine rich repeat, Ig-like and transmembrane domains 3

HGNC Alias Symbols

FLJ44691; FIGLER4; CSNB1F

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_198506.5

p.H647R

c.1940A>G

Surrounding Variants

1 paper

NM_198506.5

p.H647Q

c.1941C>A

1 paper

NM_198506.5

p.H647Q

c.1941C>G

1 paper

NM_198506.5

p.Q665P

c.1994A>C

1 paper

NM_198506.5

p.V593F

c.1777G>T

3 papers

NM_198506.5

p.C592Y

c.1775G>A

1 paper

NM_198506.5

p.L585del1

c.1753_1754delCTC

2 papers

NM_198506.5

p.L584del1

c.1750_1752delCTT

1 paper

NM_198506.5

p.D577Y

c.1729G>T

1 paper

NM_198506.5

p.C553F

c.1658G>T

2 papers

NM_198506.5

p.G547D

c.1640G>A

1 paper

NM_198506.5

p.I541V

c.1621A>G

5 papers

NM_198506.5

p.S513fs

c.1537_1538fs