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.N455T

c.1364A>C

Surrounding Variants

1 paper

NM_000179.3

p.N455I

c.1364A>T

1 paper

NM_000179.3

p.N455D

c.1363A>G

1 paper

NM_000179.3

p.W456delFs

c.1366delT

1 paper

NM_000179.3

p.A457delFs

c.1369delG

8 papers

NM_000179.3

p.W456*

c.1367G>A

2 papers

NM_000179.3

p.G454D

c.1361G>A

7 papers

NM_000179.3

p.W456*

c.1368G>A

2 papers

NM_000179.3

p.G454S

c.1360G>A

2 papers

NM_000179.3

p.G454R

c.1360G>C

1 paper

NM_000179.3

p.G454_N455insC

c.1360_1364ins3

1 paper

NM_000179.3

p.K453N

c.1359A>C

1 paper

NM_000179.3

p.K453K

c.1359A>G