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

3 papers

NM_015419.4

p.V595M

c.1783G>A

Surrounding Variants

1 paper

NM_015419.4

p.W611C

c.1833G>T

1 paper

NM_015419.4

p.W611C

c.1833G>C

1 paper

NM_015419.4

p.L613F

c.1837C>T

1 paper

NM_015419.4

p.D621_L622insFs

c.1863_1864ins4

1 paper

NM_015419.4

p.S548F

c.1643C>T

1 paper

NM_015419.4

p.D645D

c.1935C>T

1 paper

NM_015419.4

p.L540M

c.1618C>A

1 paper

NM_015419.4

p.G538G

c.1614C>T

1 paper

NM_015419.4

p.S530T

c.1589G>C

1 paper

NM_015419.4

p.S530N

c.1589G>A

1 paper

NM_015419.4

p.T663M

c.1988C>T

1 paper

NM_015419.4

p.G672G

c.2016G>A