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

1 paper

NM_000179.3

p.A465A

c.1395A>T

Surrounding Variants

1 paper

NM_000179.3

p.F466delFs

c.1396delT

1 paper

NM_000179.3

p.A465G

c.1394C>G

3 papers

NM_000179.3

p.A465V

c.1394C>T

1 paper

NM_000179.3

p.A465T

c.1393G>A

5 papers

NM_000179.3

p.G467S

c.1399G>A

1 paper

NM_000179.3

p.I464F

c.1390A>T

2 papers

NM_000179.3

p.I464delFs

c.1392delT

2 papers

NM_000179.3

p.G467D

c.1400G>A

2 papers

NM_000179.3

p.G467V

c.1400G>T

1 paper

NM_000179.3

p.G467G

c.1401C>T

1 paper

NM_000179.3

p.R468_D471del4

c.1402_1412del12

5 papers

NM_000179.3

p.R468C

c.1402C>T