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.T1141S

c.3422C>G

Surrounding Variants

1 paper

NM_015419.4

p.T1141S

c.3421A>T

1 paper

NM_015419.4

p.G1153R

c.3457G>C

1 paper

NM_015419.4

p.G1153R

c.3457G>A

3 papers

NM_015419.4

p.A1128V

c.3383C>T

2 papers

NM_015419.4

p.R1158C

c.3472C>T

3 papers

NM_015419.4

p.R1163H

c.3488G>A

1 paper

NM_015419.4

p.R1165W

c.3493C>T

1 paper

NM_015419.4

p.R1165Q

c.3494G>A

1 paper

NM_015419.4

p.T1116R

c.3347C>G

1 paper

NM_015419.4

p.P1112T

c.3334C>A

1 paper

NM_015419.4

p.S1105G

c.3313A>G

1 paper

NM_015419.4

p.M1103I

c.3309G>T