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.I824V

c.2470A>G

Surrounding Variants

1 paper

NM_015419.4

p.F821delFs

c.2463delA

1 paper

NM_015419.4

p.P827L

c.2480C>T

1 paper

NM_015419.4

p.P827R

c.2480C>G

1 paper

NM_015419.4

p.P820L

c.2459C>T

1 paper

NM_015419.4

p.P820R

c.2459C>G

1 paper

NM_015419.4

p.P820H

c.2459C>A

1 paper

NM_015419.4

p.V801_V817del0

c.2403_2450del48

1 paper

NM_015419.4

p.S814S

c.2442T>C

1 paper

NM_015419.4

p.P803P

c.2409A>G

1 paper

NM_015419.4

p.S862N

c.2585G>A

1 paper

NM_015419.4

p.M863T

c.2588T>C

1 paper

NM_015419.4

p.R782H

c.2345G>A