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

87 papers

NM_000051.4

p.G2023R

c.6067G>C

Surrounding Variants

94 papers

NM_000051.4

p.G2023R

c.6067G>A

1 paper

NM_000051.4

p.G2023E

c.6068G>A

1 paper

NM_000051.4

p.G2023A

c.6068G>C

1 paper

NM_000051.4

p.G2023insFs

c.6068_6069ins10

1 paper

NM_000051.4

p.G2023V

c.6068G>T

2 papers

NM_000051.4

p.G2022D

c.6065G>A

3 papers

NM_000051.4

p.G2024R

c.6070G>A

3 papers

NM_000051.4

p.G2024R

c.6070G>C

1 paper

NM_000051.4

p.G2024W

c.6070G>T

2 papers

NM_000051.4

p.G2024E

c.6071G>A

2 papers

NM_000051.4

p.C2021Y

c.6062G>A

1 paper

NM_000051.4

p.K2025*

c.6073A>T