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.I622K

c.1865T>A

Surrounding Variants

2 papers

NM_000179.3

p.I622insFs

c.1866dupA

1 paper

NM_000179.3

p.P623_G624insFs

c.1869_1870insC

2 papers

NM_000179.3

p.I622fs

c.1864_1865fs

1 paper

NM_000179.3

p.I622V

c.1864A>G

3 papers

NM_000179.3

p.P623delFs

c.1869delC

1 paper

NM_000179.3

p.P623T

c.1867C>A

12 papers

NM_000179.3

p.P623A

c.1867C>G

1 paper

NM_000179.3

p.P623S

c.1867C>T

1 paper

NM_000179.3

p.P623fs

c.1867_1868fs

1 paper

NM_000179.3

p.I622delFs

c.1864_1865delAT

8 papers

NM_000179.3

p.P623L

c.1868C>T

1 paper

NM_000179.3

p.L621P

c.1862T>C