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.S957C

c.2870C>G

Surrounding Variants

1 paper

NM_015419.4

p.Y960*

c.2880T>G

1 paper

NM_015419.4

p.Y960*

c.2880T>A

1 paper

NM_015419.4

p.P963P

c.2889A>G

1 paper

NM_015419.4

p.S968_L969del1

c.2904_2906delAAG

1 paper

NM_015419.4

p.G943V

c.2828G>T

1 paper

NM_015419.4

p.E971D

c.2913G>T

1 paper

NM_015419.4

p.E971D

c.2913G>C

1 paper

NM_015419.4

p.A940T

c.2818G>A

1 paper

NM_015419.4

p.F978I

c.2932T>A

1 paper

NM_015419.4

p.V930D

c.2789T>A

1 paper

NM_015419.4

p.H925Y

c.2773C>T

1 paper

NM_015419.4

p.D991Y

c.2971G>T