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.P2176L

c.6527C>T

Surrounding Variants

2 papers

NM_015419.4

p.R2177H

c.6530G>A

1 paper

NM_015419.4

p.L2179I

c.6535C>A

1 paper

NM_015419.4

p.A2170S

c.6508G>T

1 paper

NM_015419.4

p.A2190V

c.6569C>T

1 paper

NM_015419.4

p.R2154W

c.6460C>T

1 paper

NM_015419.4

p.R2147H

c.6440G>A

1 paper

NM_015419.4

p.A2131V

c.6392C>T

1 paper

NM_015419.4

p.V2123M

c.6367G>A

1 paper

NM_015419.4

p.G2118R

c.6352G>C

1 paper

NM_015419.4

p.G2118R

c.6352G>A

1 paper

NM_015419.4

p.A2113V

c.6338C>T

1 paper

NM_015419.4

p.F2102S

c.6305T>C