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

2 papers

NM_015419.4

p.S1859Y

c.5576C>A

Surrounding Variants

1 paper

NM_015419.4

p.V1863_S1864ins4

c.5587_5591ins12

1 paper

NM_015419.4

p.P1853P

c.5559A>C

1 paper

NM_015419.4

p.T1866I

c.5597C>T

1 paper

NM_015419.4

p.T1871A

c.5611A>G

1 paper

NM_015419.4

p.P1881S

c.5641C>T

1 paper

NM_015419.4

p.P1881L

c.5642C>T

1 paper

NM_015419.4

p.V1885I

c.5653G>A

1 paper

NM_015419.4

p.G1893Splc

c.5677+20A>T

1 paper

NM_015419.4

p.H1791Y

c.5371C>T

1 paper

NM_015419.4

p.P1788L

c.5363C>T

1 paper

NM_015419.4

p.G1767S

c.5299G>A

1 paper

NM_015419.4

p.R1747W

c.5239C>T