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

1 paper

NM_000051.4

p.L722fs

c.2164_2165fs

Surrounding Variants

1 paper

NM_000051.4

p.L722L

c.2164T>C

1 paper

NM_000051.4

p.L722_V723insA

c.2164_2168ins3

1 paper

NM_000051.4

p.L722_G733delFs

c.2165_2198del34

1 paper

NM_000051.4

p.L722S

c.2165T>C

1 paper

NM_000051.4

p.L722W

c.2165T>G

1 paper

NM_000051.4

p.L722F

c.2166G>T

1 paper

NM_000051.4

p.V723delFs

c.2167_2168delGT

1 paper

NM_000051.4

p.L721R

c.2162T>G

2 papers

NM_000051.4

p.L722insFs

c.2165_2166insT

1 paper

NM_000051.4

p.L722delFs

c.2165delT

2 papers

NM_000051.4

p.V723M

c.2167G>A

1 paper

NM_000051.4

p.V723fs

c.2167_2168fs