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.P1230T

c.3688C>A

Surrounding Variants

1 paper

NM_015419.4

p.R1232I

c.3695G>T

1 paper

NM_015419.4

p.G1235R

c.3703G>C

1 paper

NM_015419.4

p.G1235R

c.3703G>A

1 paper

NM_015419.4

p.S1249S

c.3747C>T

1 paper

NM_015419.4

p.A1252S

c.3754G>T

1 paper

NM_015419.4

p.D1207G

c.3620A>G

1 paper

NM_015419.4

p.G1254A

c.3761G>C

1 paper

NM_015419.4

p.S1260F

c.3779C>T

1 paper

NM_015419.4

p.P1279L

c.3836C>T

1 paper

NM_015419.4

p.T1179S

c.3536C>G

1 paper

NM_015419.4

p.T1179S

c.3535A>T

1 paper

NM_015419.4

p.R1165Q

c.3494G>A