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.S851I

c.2552G>T

Surrounding Variants

6 papers

NM_000179.3

p.S851insFs

c.2552_2553dupGC

1 paper

NM_000179.3

p.S851fs

c.2551_2552fs

1 paper

NM_000179.3

p.K852ins1

c.2554_2555insAGA

1 paper

NM_000179.3

p.K852delFs

c.2555delA

2 papers

NM_000179.3

p.K852delFs

c.2554_2555delAA

14 papers

NM_000179.3

p.K854del1

c.2560_2561delAAG

1 paper

NM_000179.3

p.K852fs

c.2554_2555fs

8 papers

NM_000179.3

p.K852fs

c.2554_2555fs

7 papers

NM_000179.3

p.Y850*

c.2550C>A

8 papers

NM_000179.3

p.Y850*

c.2550C>G

5 papers

NM_000179.3

p.Y850C

c.2549A>G

1 paper

NM_000179.3

p.Y850F

c.2549A>T