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.V607E

c.1820T>A

Surrounding Variants

4 papers

NM_000051.4

p.V607I

c.1819G>A

1 paper

NM_000051.4

p.V607L

c.1819G>C

1 paper

NM_000051.4

p.V607L

c.1819G>T

1 paper

NM_000051.4

p.L608fs

c.1822_1823fs

1 paper

NM_000051.4

p.L606H

c.1817T>A

1 paper

NM_000051.4

p.L608P

c.1823T>C

1 paper

NM_000051.4

p.E609delFs

c.1825delG

1 paper

NM_000051.4

p.L606V

c.1816C>G

2 papers

NM_000051.4

p.L606F

c.1816C>T

1 paper

NM_000051.4

p.E609_I611del3

c.1825_1832del9

1 paper

NM_000051.4

p.E609K

c.1825G>A

3 papers

NM_000051.4

p.E609Q

c.1825G>C