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.Q593R

c.1778A>G

Surrounding Variants

1 paper

NM_000179.3

p.Q593H

c.1779A>C

1 paper

NM_000179.3

p.Q593H

c.1779A>T

1 paper

NM_000179.3

p.Q593fs

c.1777_1778fs

3 papers

NM_000179.3

p.Q593*

c.1777C>T

1 paper

NM_000179.3

p.V592V

c.1776A>T

1 paper

NM_000179.3

p.V594I

c.1780G>A

15 papers

NM_000179.3

p.L595delFs

c.1784delT

1 paper

NM_000179.3

p.V594fs

c.1780_1781fs

1 paper

NM_000179.3

p.V592delFs

c.1776delA

4 papers

NM_000179.3

p.V592I

c.1774G>A

2 papers

NM_000179.3

p.V592fs

c.1774_1775fs

1 paper

NM_000179.3

p.V592_Q593insT

c.1774_1778ins3