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.L1405_L1408delFs

c.4215_4224del10

Surrounding Variants

1 paper

NM_000051.4

p.L1405_E1406del2

c.4213_4217del6

1 paper

NM_000051.4

p.I1404S

c.4211T>G

2 papers

NM_000051.4

p.L1405fs

c.4213_4214fs

1 paper

NM_000051.4

p.L1405insFs

c.4214_4215ins7

1 paper

NM_000051.4

p.S1403R

c.4209C>A

1 paper

NM_000051.4

p.S1403N

c.4208G>A

1 paper

NM_000051.4

p.E1406K

c.4216G>A

2 papers

NM_000051.4

p.E1406*

c.4216G>T

1 paper

NM_000051.4

p.I1407delFs

c.4219delA

2 papers

NM_000051.4

p.S1403fs

c.4207_4208fs

2 papers

NM_000051.4

p.S1403G

c.4207A>G

1 paper

NM_000051.4

p.S1403C

c.4207A>T