Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000051.4

p.M2026I

c.6078G>C

Surrounding Variants

2 papers

NM_000051.4

p.M2026I

c.6078G>A

2 papers

NM_000051.4

p.M2026I

c.6078G>T

1 paper

NM_000051.4

p.Q2028delFs

c.6082delC

1 paper

NM_000051.4

p.K2025N

c.6075G>C

1 paper

NM_000051.4

p.K2025N

c.6075G>T

1 paper

NM_000051.4

p.K2025R

c.6074A>G

1 paper

NM_000051.4

p.Q2028K

c.6082C>A

14 papers

NM_000051.4

p.Q2028*

c.6082C>T

1 paper

NM_000051.4

p.Q2028fs

c.6082_6083fs

1 paper

NM_000051.4

p.Q2028R

c.6083A>G

1 paper

NM_000051.4

p.K2025*

c.6073A>T

2 papers

NM_000051.4

p.Q2028H

c.6084A>C