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.G2258W

c.6772G>T

Surrounding Variants

1 paper

NM_015419.4

p.D2252N

c.6754G>A

1 paper

NM_015419.4

p.M2240I

c.6720G>T

1 paper

NM_015419.4

p.M2240I

c.6720G>C

1 paper

NM_015419.4

p.M2240I

c.6720G>A

1 paper

NM_015419.4

p.V2239V

c.6717G>A

1 paper

NM_015419.4

p.V2238V

c.6714G>A

1 paper

NM_015419.4

p.R2297R

c.6891C>T

1 paper

NM_015419.4

p.R2300H

c.6899G>A

1 paper

NM_015419.4

p.T2212M

c.6635C>T

1 paper

NM_015419.4

p.G2204V

c.6611G>T

1 paper

NM_015419.4

p.G2204W

c.6610G>T

1 paper

NM_015419.4

p.Q2329*

c.6985C>T