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.R1904W

c.5710C>T

Surrounding Variants

1 paper

NM_015419.4

p.N1899S

c.5696A>G

1 paper

NM_015419.4

p.P1898P

c.5694G>A

1 paper

NM_015419.4

p.Q1925R

c.5774A>G

1 paper

NM_015419.4

p.Q1925delFs

c.5773_5774delTG

1 paper

NM_015419.4

p.L1933V

c.5797C>G

1 paper

NM_015419.4

p.S1944L

c.5831C>T

1 paper

NM_015419.4

p.T1967N

c.5900C>A

1 paper

NM_015419.4

p.G1976E

c.5927G>A

1 paper

NM_015419.4

p.P1980S

c.5938C>T

1 paper

NM_015419.4

p.Q1981*

c.5941C>T

1 paper

NM_015419.4

p.Q1981delFs

c.5941delG

1 paper

NM_015419.4

p.Q1981fs

c.5941_5942fs