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.P314H

c.941C>A

Surrounding Variants

1 paper

NM_015419.4

p.P314T

c.940C>A

1 paper

NM_015419.4

p.W316S

c.947G>C

1 paper

NM_015419.4

p.I318N

c.953T>A

1 paper

NM_015419.4

p.D324Y

c.970G>T

1 paper

NM_015419.4

p.D301E

c.903T>G

1 paper

NM_015419.4

p.D301E

c.903T>A

1 paper

NM_015419.4

p.T350M

c.1049C>T

1 paper

NM_015419.4

p.T350delFs

c.1048delT

1 paper

NM_015419.4

p.T350fs

c.1048_1049fs

1 paper

NM_015419.4

p.D356H

c.1066G>C

1 paper

NM_015419.4

p.K379N

c.1137A>T

1 paper

NM_015419.4

p.K379N

c.1137A>C