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.R1747W

c.5239C>T

Surrounding Variants

1 paper

NM_015419.4

p.G1728E

c.5183G>A

1 paper

NM_015419.4

p.G1767S

c.5299G>A

1 paper

NM_015419.4

p.S1726S

c.5178C>T

1 paper

NM_015419.4

p.P1788L

c.5363C>T

1 paper

NM_015419.4

p.G1703E

c.5108G>A

1 paper

NM_015419.4

p.H1791Y

c.5371C>T

1 paper

NM_015419.4

p.R1666T

c.4997G>C

2 papers

NM_015419.4

p.P1665S

c.4993C>T

1 paper

NM_015419.4

p.E1647Q

c.4939G>C

1 paper

NM_015419.4

p.R1640H

c.4919G>A

1 paper

NM_015419.4

p.P1853P

c.5559A>C

2 papers

NM_015419.4

p.S1859Y

c.5576C>A