Varaico: Literature-Extracted Genetic Variants

MXRA5

172 papers

RefSeq Summary

This gene encodes one of the matrix-remodelling associated proteins. This protein contains 7 leucine-rich repeats and 12 immunoglobulin-like C2-type domains related to perlecan. This gene has a pseudo...

Pfam Domains

LRR_8aa 79–129UCSCLeucine rich repeat

LRR_8aa 109–163UCSCLeucine rich repeat

Ig_3aa 480–558UCSCImmunoglobulin domain

Ig_3aa 575–655UCSCImmunoglobulin domain

Ig_3aa 1852–1932UCSCImmunoglobulin domain

I-setaa 1950–2042UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

matrix remodeling associated 5

HGNC Alias Symbol

DKFZp564I1922

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015419.4

p.N148K

c.444C>A

Surrounding Variants

1 paper

NM_015419.4

p.N148N

c.444C>T

1 paper

NM_015419.4

p.N148K

c.444C>G

1 paper

NM_015419.4

p.N161I

c.482A>T

1 paper

NM_015419.4

p.N113D

c.337A>G

1 paper

NM_015419.4

p.R204Q

c.611G>A

1 paper

NM_015419.4

p.P207S

c.619C>T

1 paper

NM_015419.4

p.P218S

c.652C>T

1 paper

NM_015419.4

p.P218L

c.653C>T

2 papers

NM_015419.4

p.D222N

c.664G>A

1 paper

NM_015419.4

p.G237Splc

c.709+1G>A

1 paper

NM_015419.4

p.A98D

c.293C>A

1 paper

NM_015419.4

p.D301E

c.903T>G