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.Y469Y

c.1407T>C

Surrounding Variants

4 papers

NM_000179.3

p.Y469*

c.1407T>A

4 papers

NM_000179.3

p.Y469*

c.1407T>G

4 papers

NM_000179.3

p.Y469C

c.1406A>G

1 paper

NM_000179.3

p.Y469F

c.1406A>T

1 paper

NM_000179.3

p.S470P

c.1408T>C

3 papers

NM_000179.3

p.S470*

c.1409C>A

3 papers

NM_000179.3

p.S470*

c.1409C>G

2 papers

NM_000179.3

p.S470L

c.1409C>T

1 paper

NM_000179.3

p.Y469fs

c.1405_1406fs

1 paper

NM_000179.3

p.D471delFs

c.1411delG

20 papers

NM_000179.3

p.R468H

c.1403G>A

1 paper

NM_000179.3

p.D471N

c.1411G>A