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.F1568I

c.4702T>A

Surrounding Variants

1 paper

NM_015419.4

p.D1564E

c.4692C>G

1 paper

NM_015419.4

p.D1564E

c.4692C>A

1 paper

NM_015419.4

p.D1564N

c.4690G>A

1 paper

NM_015419.4

p.Q1579*

c.4735C>T

1 paper

NM_015419.4

p.R1588C

c.4762C>T

1 paper

NM_015419.4

p.G1589C

c.4765G>T

1 paper

NM_015419.4

p.G1589A

c.4766G>C

1 paper

NM_015419.4

p.A1541T

c.4621G>A

1 paper

NM_015419.4

p.V1534M

c.4600G>A

1 paper

NM_015419.4

p.Y1533F

c.4598A>T

1 paper

NM_015419.4

p.Y1533C

c.4598A>G

1 paper

NM_015419.4

p.E1527K

c.4579G>A