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

1–12 of 295 variants

3 papers

NM_015419.4

p.V595M

c.1783G>A

3 papers

NM_015419.4

p.A1128V

c.3383C>T

3 papers

NM_015419.4

p.R1163H

c.3488G>A

3 papers

NM_015419.4

p.V2688I

c.8062G>A

2 papers

NM_015419.4

p.D222N

c.664G>A

2 papers

NM_015419.4

p.S957C

c.2870C>G

2 papers

NM_015419.4

p.R1158C

c.3472C>T

2 papers

NM_015419.4

p.P1665S

c.4993C>T

2 papers

NM_015419.4

p.S1859Y

c.5576C>A

2 papers

NM_015419.4

p.R1904W

c.5710C>T

2 papers

NM_015419.4

p.G2000S

c.5998G>A

2 papers

NM_015419.4

p.R2177H

c.6530G>A