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.S549S

c.1647T>C

Surrounding Variants

1 paper

NM_000179.3

p.S550_V558delFs

c.1648_1672del25

3 papers

NM_000179.3

p.S549F

c.1646C>T

1 paper

NM_000179.3

p.S550P

c.1648T>C

1 paper

NM_000179.3

p.S550delFs

c.1649delC

1 paper

NM_000179.3

p.S550fs

c.1648_1649fs

1 paper

NM_000179.3

p.S550_G551del1

c.1649_1651delCTG

1 paper

NM_000179.3

p.S550C

c.1649C>G

1 paper

NM_000179.3

p.S550F

c.1649C>T

1 paper

NM_000179.3

p.G551_G557del0

c.1652_1669del18

1 paper

NM_000179.3

p.S549P

c.1645T>C

1 paper

NM_000179.3

p.S549fs

c.1645_1646fs

1 paper

NM_000179.3

p.D548D

c.1644T>C