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.F2017Y

c.6050T>A

Surrounding Variants

1 paper

NM_015419.4

p.A2015V

c.6044C>T

1 paper

NM_015419.4

p.V2022I

c.6064G>A

1 paper

NM_015419.4

p.S2011S

c.6033C>T

1 paper

NM_015419.4

p.S2011F

c.6032C>T

1 paper

NM_015419.4

p.V2026M

c.6076G>A

1 paper

NM_015419.4

p.E2006K

c.6016G>A

1 paper

NM_015419.4

p.R2001H

c.6002G>A

1 paper

NM_015419.4

p.A2033V

c.6098C>T

2 papers

NM_015419.4

p.G2000S

c.5998G>A

1 paper

NM_015419.4

p.V1998M

c.5992G>A

1 paper

NM_015419.4

p.R2039H

c.6116G>A

1 paper

NM_015419.4

p.L2040L

c.6118C>T