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

2 papers

NM_015419.4

p.A2621D

c.7862C>A

Surrounding Variants

1 paper

NM_015419.4

p.A2621S

c.7861G>T

1 paper

NM_015419.4

p.A2618D

c.7853C>A

1 paper

NM_015419.4

p.A2613D

c.7838C>A

1 paper

NM_015419.4

p.A2611A

c.7833C>T

1 paper

NM_015419.4

p.D2610D

c.7830C>T

1 paper

NM_015419.4

p.S2608S

c.7824G>A

1 paper

NM_015419.4

p.I2649I

c.7947C>T

1 paper

NM_015419.4

p.E2653K

c.7957G>A

1 paper

NM_015419.4

p.G2663W

c.7987G>T

1 paper

NM_015419.4

p.G2663A

c.7988G>C

1 paper

NM_015419.4

p.R2668P

c.8003G>C

1 paper

NM_015419.4

p.T2672M

c.8015C>T