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.D1335E

c.4005C>G

Surrounding Variants

1 paper

NM_015419.4

p.D1335E

c.4005C>A

1 paper

NM_015419.4

p.G1323V

c.3968G>T

1 paper

NM_015419.4

p.L1313F

c.3937C>T

1 paper

NM_015419.4

p.R1300G

c.3898A>G

1 paper

NM_015419.4

p.T1299P

c.3895A>C

1 paper

NM_015419.4

p.M1296I

c.3888G>T

1 paper

NM_015419.4

p.M1296I

c.3888G>C

1 paper

NM_015419.4

p.M1296I

c.3888G>A

1 paper

NM_015419.4

p.T1377I

c.4130C>T

1 paper

NM_015419.4

p.T1385M

c.4154C>T

1 paper

NM_015419.4

p.P1279L

c.3836C>T

1 paper

NM_015419.4

p.G1394D

c.4181G>A