Varaico: Literature-Extracted Genetic Variants

MSH6

3,286 papers

RefSeq Summary

This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of a...

Pfam Domains

PWWPaa 1–85UCSCPWWP domain

MutS_Iaa 308–427UCSCMutS domain I

MutS_IIaa 438–604UCSCMutS domain II

MutS_IIIaa 639–965UCSCMutS domain III

MutS_IVaa 833–925UCSCMutS family domain IV

MutS_Vaa 1031–1225UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 6

HGNC Previous Symbol

GTBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000179.3

p.H552Q

c.1656T>A

Surrounding Variants

1 paper

NM_000179.3

p.H552H

c.1656T>C

2 papers

NM_000179.3

p.H552Q

c.1656T>G

1 paper

NM_000179.3

p.H552insFs

c.1656dupT

2 papers

NM_000179.3

p.T553P

c.1657A>C

3 papers

NM_000179.3

p.H552L

c.1655A>T

1 paper

NM_000179.3

p.T553fs

c.1657_1658fs

3 papers

NM_000179.3

p.T553I

c.1658C>T

1 paper

NM_000179.3

p.H552Y

c.1654C>T

1 paper

NM_000179.3

p.T553_G557del0

c.1659_1670del12

1 paper

NM_000179.3

p.R554_V561del0

c.1660_1683del24

1 paper

NM_000179.3

p.R554_A555delFs

c.1660_1663del4

1 paper

NM_000179.3

p.R554C

c.1660C>T